Variant: rs121913348 

    present in Gene: BRAF
    present in Chromosome: 7
    Position on Chromosome: 140781617
    Alleles of this Variant: C/A;G;T

rs121913348 in BRAF gene and Cardio-facio-cutaneous syndrome PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

PMID 12692057 2003 Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma.

PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

rs121913348 in BRAF gene and Chronic Lymphocytic Leukemia PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

rs121913348 in BRAF gene and Colorectal Carcinoma PMID 21917714 2011 Protein arginine methyltransferase 5 regulates ERK1/2 signal transduction amplitude and cell fate through CRAF.

PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

PMID 24455489 2014 Evidence That GRIN2A Mutations in Melanoma Correlate with Decreased Survival.

PMID 12198537 2002 Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.

rs121913348 in BRAF gene and Curly hair (finding) PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

rs121913348 in BRAF gene and Developmental delay (disorder) PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

rs121913348 in BRAF gene and Diminished sweating PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

rs121913348 in BRAF gene and Increased tendency to bruise PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

rs121913348 in BRAF gene and Large head (disorder) PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

rs121913348 in BRAF gene and Madarosis of eyebrow PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

rs121913348 in BRAF gene and Mammary Neoplasms PMID 12068308 2002 Mutations of the BRAF gene in human cancer.

PMID 22538770 2012 Mutation profiling identifies numerous rare drug targets and distinct mutation patterns in different clinical subtypes of breast cancers.

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

rs121913348 in BRAF gene and Muscle hypotonia PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

rs121913348 in BRAF gene and Neoplasms PMID 15035987 2004 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.

rs121913348 in BRAF gene and Non-Small Cell Lung Carcinoma PMID 12068308 2002 Mutations of the BRAF gene in human cancer.

PMID 19593635 2010 Distinct gene mutation profiles among luminal-type and basal-type breast cancer cell lines.

PMID 17314276 2007 Phosphatidylinositol-3-OH kinase or RAS pathway mutations in human breast cancer cell lines.

rs121913348 in BRAF gene and Noonan Syndrome PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

PMID 12692057 2003 Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma.

PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

rs121913348 in BRAF gene and Polyhydramnios PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

rs121913348 in BRAF gene and Sparse eyebrow PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.