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| Gene | BRAF |
| Variant | V600E |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | BRAF V600E (previously reported as V599E) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600E confers a gain of function to the Braf protein as demonstrated by increased Braf kinase activity, downstream signaling, and the ability to transform cells in culture (PMID: 15035987, PMID: 29533785, PMID: 18697864). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF V600E/K BRAF V600E BRAF mutant BRAF V600X BRAF V600E/K BRAF V600E |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753336A>T |
| cDNA | c.1799T>A |
| Protein | p.V600E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004333.5 | chr7:g.140753336A>T | c.1799T>A | p.V600E | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753336A>T | c.1799T>A | p.V600E | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753336A>T | c.1799T>A | p.V600E | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753336A>T | c.1799T>A | p.V600E | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753336A>T | c.1799T>A | p.V600E | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753336A>T | c.1799T>A | p.V600E | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753336A>T | c.1799T>A | p.V600E | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753336A>T | c.1799T>A | p.V600E | RefSeq | GRCh38/hg38 |