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Gene | BRAF |
Variant | V600X |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF V600X indicates any BRAF missense mutation that results in replacement of the valine (V) at amino acid 600 by a different amino acid. BRAF V600 mutations are hotspot mutations that often result in increased Braf kinase activity (PMID: 15035987). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF V600X |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753335_140753337 |
cDNA | c.1798_1800 |
Protein | p.V600 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |