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Gene | BRAF |
Variant | V600M |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF V600M (previously reported as V599) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600M results in intermediate Braf kinase activity in cell culture (PMID: 28783719), and in one of two cell lines increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785), and therefore, is predicted to lead to a gain of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF V600M BRAF mutant BRAF V600X BRAF V600M |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753337C>T |
cDNA | c.1798G>A |
Protein | p.V600M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |