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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 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378474.1 | chr7:g.140753336A>C | c.1799T>G | p.V600G | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753336A>C | c.1799T>G | p.V600G | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753336A>C | c.1799T>G | p.V600G | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753336A>C | c.1799T>G | p.V600G | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753336A>C | c.1799T>G | p.V600G | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753336A>C | c.1799T>G | p.V600G | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753336A>C | c.1799T>G | p.V600G | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753336A>C | c.1799T>G | p.V600G | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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