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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 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378474.1 | chr7:g.140753337C>T | c.1798G>A | p.V600M | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753337C>T | c.1798G>A | p.V600M | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753337C>T | c.1798G>A | p.V600M | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753337C>T | c.1798G>A | p.V600M | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753337C>T | c.1798G>A | p.V600M | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753337C>T | c.1798G>A | p.V600M | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753337C>T | c.1798G>A | p.V600M | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753337C>T | c.1798G>A | p.V600M | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT03839342 | Phase II | Binimetinib + Encorafenib | Binimetinib and Encorafenib for the Treatment of Advanced Solid Tumors With Non-V600E BRAF Mutations (BEAVER) | Active, not recruiting | CAN | 0 |
| NCT04061980 | Phase II | Binimetinib + Encorafenib Binimetinib + Encorafenib + Nivolumab | Encorafenib and Binimetinib With or Without Nivolumab in Treating Patients With Metastatic Radioiodine Refractory BRAF V600 Mutant Thyroid Cancer | Active, not recruiting | USA | 0 |