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Gene | BRAF |
Variant | V600K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF V600K (previously reported as V599) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600K confers a gain of function to the Braf protein as demonstrated by increased kinase activity, downstream signaling, and the ability to transform cells in vitro (PMID: 15035987, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF V600E/K BRAF V600K BRAF mutant BRAF V600X BRAF V600E/K BRAF V600K |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753336_140753337delGTinsAA |
cDNA | c.1798_1799delGTinsAA |
Protein | p.V600K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |