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| Gene | BRAF |
| Variant | T599K |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | BRAF T599K lies within the protein kinase domain of the Braf protein (UniProt.org). T599K is predicted to lead to a gain of Braf protein function as demonstrated by increased Erk phosphorylation in culture, and is associated with resistance to Raf inhibitors (PMID: 31158244). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF T599K BRAF mutant BRAF T599X BRAF T599K |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753339G>T |
| cDNA | c.1796C>A |
| Protein | p.T599K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378468.1 | chr7:g.140753339G>T | c.1796C>A | p.T599K | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753339G>T | c.1796C>A | p.T599K | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753339G>T | c.1796C>A | p.T599K | RefSeq | GRCh38/hg38 |
| NM_001378473.1 | chr7:g.140749326_140749327delCTinsAG | c.1796_1797delCTinsAG | p.T599K | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753339G>T | c.1796C>A | p.T599K | RefSeq | GRCh38/hg38 |
| NM_001378472.1 | chr7:g.140749326_140749327delCTinsAG | c.1796_1797delCTinsAG | p.T599K | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753339G>T | c.1796C>A | p.T599K | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753339G>T | c.1796C>A | p.T599K | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753339G>T | c.1796C>A | p.T599K | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753339G>T | c.1796C>A | p.T599K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| BRAF T599K | breast cancer | predicted - resistant | Dabrafenib | Preclinical | Actionable | In a preclinical study, Tafinlar (dabrafenib) treatment did not inhibit Erk phosphorylation in breast cancer cells expressing BRAF T599K in culture (PMID: 31158244). | 31158244 |