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| Gene | BRAF |
| Variant | S467L |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | BRAF S467L lies within the protein kinase domain of the Braf protein (UniProt.org). S467L results in impaired Braf kinase activity, but leads to Ras-dependent activation of Erk in cell culture (PMID: 28783719) and increased cell proliferation and cell viability in two different cell lines (PMID: 29533785), and therefore, is predicted to lead to a loss of Braf protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF inact mut BRAF S467L BRAF mutant BRAF S467X BRAF S467L |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140781608G>A |
| cDNA | c.1400C>T |
| Protein | p.S467L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001354609.2 | chr7:g.140781608G>A | c.1400C>T | p.S467L | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140781608G>A | c.1400C>T | p.S467L | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140781608G>A | c.1400C>T | p.S467L | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140781608G>A | c.1400C>T | p.S467L | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140781608G>A | c.1400C>T | p.S467L | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140781608G>A | c.1400C>T | p.S467L | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140781608G>A | c.1400C>T | p.S467L | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140781608G>A | c.1400C>T | p.S467L | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140781608G>A | c.1400C>T | p.S467L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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