Variant: rs104894366 

    present in Gene: KRAS
    present in Chromosome: 12
    Position on Chromosome: 25245284
    Alleles of this Variant: G/A;C

rs104894366 in KRAS gene and CARDIOFACIOCUTANEOUS SYNDROME 2 PMID 21797849 2012 Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.

PMID 17056636 2007 Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

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 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

rs104894366 in KRAS gene and Cardio-facio-cutaneous syndrome PMID 16474405 2006 We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome.

PMID 8246952 1993 Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction.

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

PMID 17875937 2007 We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome.

rs104894366 in KRAS gene and Global developmental delay PMID 17875939 2007 Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene.

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

PMID 16474405 2006 Germline KRAS mutations cause Noonan syndrome.

rs104894366 in KRAS gene and Leukemia, Myelocytic, Acute PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

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

PMID 16474405 2006 Germline KRAS mutations cause Noonan syndrome.

rs104894366 in KRAS gene and NOONAN SYNDROME 3 PMID 16474405 2006 Germline KRAS mutations cause Noonan syndrome.

PMID 17468812 2007 Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

PMID 17056636 2007 Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

PMID 19396835 2009 Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

PMID 16773572 2006 Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

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

rs104894366 in KRAS gene and Noonan Syndrome PMID 17875937 2007 We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome.

PMID 8246952 1993 Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction.

PMID 16474405 2006 We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome.

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

PMID 17056636 2007 Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

rs104894366 in KRAS gene and Pediatric failure to thrive 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 17875939 2007 Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene.

rs104894366 in KRAS gene and RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

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

PMID 16474405 2006 Germline KRAS mutations cause Noonan syndrome.

rs104894366 in KRAS gene and Short stature 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 17875939 2007 Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene.