Variant: rs121913341 

    present in Gene: BRAF
    present in Chromosome: 7
    Position on Chromosome: 140753350
    Alleles of this Variant: A/C;T

rs121913341 in BRAF gene and Cardio-facio-cutaneous syndrome PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

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

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

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

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

rs121913341 in BRAF gene and Neoplasms PMID 15035987 2004 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.

rs121913341 in BRAF gene and melanoma PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.