Gene: LRRC56

Alternate names for this Gene: CILD39

Gene Summary:

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: leucine rich repeat containing 56

Type of Gene: protein-coding

Gene: HRAS

Alternate names for this Gene: C-BAS/HAS|C-H-RAS|C-HA-RAS1|CTLO|H-RASIDX|HAMSV|HRAS1|RASH1|p21ras

Gene Summary: This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: HRas proto-oncogene, GTPase

Type of Gene: protein-coding

rs104894226 in LRRC56;HRAS gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Adenocarcinoma of pancreas PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Adenocarcinoma of prostate PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Adenoid Cystic Carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Alopecia PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Carcinoma of bladder PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs104894226 in LRRC56;HRAS gene and Cardiomyopathies, Primary PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894226 in LRRC56;HRAS gene and Chronic Lymphocytic Leukemia PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Coarse facial features PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

rs104894226 in LRRC56;HRAS gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 16478791 2006 APC inhibits ERK pathway activation and cellular proliferation induced by RAS.

rs104894229 in LRRC56;HRAS gene and Congestive heart failure PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

rs104894226 in LRRC56;HRAS gene and Costello syndrome (disorder) PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 24224811 2013 Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 19995790 2010 Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 18247425 2008 Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 23093928 2012 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.

PMID 17211612 2007 An unexpected new role of mutant Ras: perturbation of human embryonic development.

PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 21850009 2011 HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

PMID 21438134 2011 To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S.

PMID 18039947 2008 Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.

PMID 18978862 2008 Partially correlated thin annular sources: the scalar case.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16969868 2006 De novo heterozygous HRAS point mutations have been reported in more than 81 patients with Costello syndrome (CS), but genotype/phenotype correlation remains incomplete because the majority of patients share a common mutation, G12S, seen in 65/81 (80%).

PMID 18247425 2008 More than 80% of patients with Costello syndrome share the same underlying mutation, resulting in a G12S amino acid change.

PMID 17412879 2007 Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.

PMID 19382114 2009 Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

PMID 16835863 2006 Paternal bias in parental origin of HRAS mutations in Costello syndrome.

PMID 20979192 2010 Heterozygous missense mutations in HRAS are causative for Costello syndrome, with the c.34G > A (p.G12S) mutation as the most commonly found alteration.

PMID 20660566 2010 Enhanced human brain associative plasticity in Costello syndrome.

PMID 23751039 2013 Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.

PMID 21834037 2011 Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

PMID 19371735 2009 Costello syndrome H-Ras alleles regulate cortical development.

PMID 19669404 2009 Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level.

PMID 21850009 2011 In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.

PMID 22317973 2012 C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

PMID 22926243 2012 Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

PMID 17412879 2007 Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.

PMID 22488832 2012 Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.

PMID 16474405 2006 Germline KRAS mutations cause Noonan syndrome.

PMID 20949621 2011 Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

PMID 20112233 2010 Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.

PMID 16921267 2006 Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.

PMID 23321623 2013 Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

PMID 10716188 2000 Role of the switch II region in the conformational transition of activation of Ha-ras-p21.

PMID 3283542 1988 The ras gene family and human carcinogenesis.

PMID 6287572 1982 Nucleotide sequence of the p21 transforming protein of Harvey murine sarcoma virus.

PMID 6287573 1982 Nucleotide sequence of the oncogene encoding the p21 transforming protein of Kirsten murine sarcoma virus.

PMID 21779495 2011 Functional specificity of ras isoforms: so similar but so different.

PMID 3004741 1986 Ras p21 proteins with high or low GTPase activity can efficiently transform NIH/3T3 cells.

PMID 3304147 1987 ras genes.

PMID 2674130 1989 rac, a novel ras-related family of proteins that are botulinum toxin substrates.

PMID 6288698 1982 Characterization of the phosphorylation sites and the surrounding amino acid sequences of the p21 transforming proteins coded for by the Harvey and Kirsten strains of murine sarcoma viruses.

PMID 21850009 2011 In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.

rs104894226 in LRRC56;HRAS gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Deep palmar crease PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Esophageal carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Facial wart PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894226 in LRRC56;HRAS gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Glioblastoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Global developmental delay PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Hydrocephalus PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Hypertrophic Cardiomyopathy PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Isolated somatotropin deficiency PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894226 in LRRC56;HRAS gene and Leukemia, Myelocytic, Acute PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Liver carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs104894226 in LRRC56;HRAS gene and Multiple Myeloma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Muscle hypotonia PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 19382114 2009 Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

PMID 22926243 2012 Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

PMID 21850009 2011 HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

rs121913496 in LRRC56;HRAS gene and NOONAN SYNDROME 3 PMID 3510078 1986 Biological and biochemical properties of human rasH genes mutated at codon 61.

PMID 1904555 1991 Differential regulation of rasGAP and neurofibromatosis gene product activities.

rs104894229 in LRRC56;HRAS gene and Nasopharyngeal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs104894228 in LRRC56;HRAS gene and Nevus Sebaceus of Jadassohn PMID 22683711 2012 Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

rs104894228 in LRRC56;HRAS gene and Nevus sebaceous PMID 23096712 2013 Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.

rs727503093 in LRRC56;HRAS gene and Non-Small Cell Lung Carcinoma PMID 10716188 2000 Role of the switch II region in the conformational transition of activation of Ha-ras-p21.

PMID 2674130 1989 rac, a novel ras-related family of proteins that are botulinum toxin substrates.

PMID 21779495 2011 Functional specificity of ras isoforms: so similar but so different.

PMID 3004741 1986 Ras p21 proteins with high or low GTPase activity can efficiently transform NIH/3T3 cells.

PMID 6287572 1982 Nucleotide sequence of the p21 transforming protein of Harvey murine sarcoma virus.

PMID 6288698 1982 Characterization of the phosphorylation sites and the surrounding amino acid sequences of the p21 transforming proteins coded for by the Harvey and Kirsten strains of murine sarcoma viruses.

PMID 6287573 1982 Nucleotide sequence of the oncogene encoding the p21 transforming protein of Kirsten murine sarcoma virus.

PMID 3304147 1987 ras genes.

PMID 3283542 1988 The ras gene family and human carcinogenesis.

rs104894228 in LRRC56;HRAS gene and Noonan Syndrome PMID 21438134 2011 Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

rs104894226 in LRRC56;HRAS gene and Palmoplantar Keratosis PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Papillary renal cell carcinoma, sporadic PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Papilloma PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Poor respiratory effort PMID 21850009 2011 HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 19382114 2009 Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

PMID 22926243 2012 Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

rs104894229 in LRRC56;HRAS gene and Pulmonary Stenosis PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Scoliosis, unspecified PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Serous cystadenocarcinoma ovary PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Squamous cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Squamous cell carcinoma of skin PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Subglottic stenosis PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

rs28933406 in LRRC56;HRAS gene and THYROID CANCER, NONMEDULLARY, 2 PMID 12727991 2003 RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma.

rs104894226 in LRRC56;HRAS gene and Thymoma PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 20859122 2010 Thymic tumors: relevant molecular data in the clinic.

rs104894228 in LRRC56;HRAS gene and Thyroid Neoplasm PMID 19773371 2009 Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma.

PMID 23406027 2013 Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 17384584 2007 Hyperactive Ras in developmental disorders and cancer.

PMID 19255327 2009 Phase II trial of sorafenib in metastatic thyroid cancer.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Transitional cell carcinoma of bladder PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Uterine Carcinosarcoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894226 in LRRC56;HRAS gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.