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Gene | BRAF |
Variant | V600G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF V600G (previously reported as V599G) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600G confers a gain of function to Braf as indicated by increased phosphorylation of MEK and ERK and activation of ELK in culture (PMID: 20735442, PMID: 26744778), and in one of two cell lines, increased cell proliferation and viability compared to wild-type Braf (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF V600G BRAF mutant BRAF V600X BRAF V600G |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753336A>C |
cDNA | c.1799T>G |
Protein | p.V600G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |