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| Gene | BRAF |
| Variant | V600K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | BRAF V600K (previously reported as V599) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600K confers a gain of function to the Braf protein as demonstrated by increased kinase activity, downstream signaling, and the ability to transform cells in vitro (PMID: 15035987, PMID: 29533785). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF V600E/K BRAF V600K BRAF mutant BRAF V600X BRAF V600E/K BRAF V600K |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753336_140753337delGTinsAA |
| cDNA | c.1798_1799delGTinsAA |
| Protein | p.V600K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004333 | chr7:g.140753336_140753337delACinsTT | c.1798_1799delGTinsAA | p.V600K | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753336_140753337delGTinsAA | c.1798_1799delGTinsAA | p.V600K | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753336_140753337delGTinsAA | c.1798_1799delGTinsAA | p.V600K | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753336_140753337delACinsTT | c.1798_1799delGTinsAA | p.V600K | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753336_140753337delACinsTT | c.1798_1799delGTinsAA | p.V600K | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753336_140753337delGTinsAA | c.1798_1799delGTinsAA | p.V600K | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753336_140753337delGTinsAA | c.1798_1799delGTinsAA | p.V600K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BRAF V600K | gain of function | BRAF Inhibitor MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor RAF Inhibitor (Pan) |
| BRAF V600K NRAS Q61K | ||
| BRAF V600K MAP2K1 P124Q | ||
| BRAF V600K MAP2K1 P124L | ||
| BRAF V600K MAP2K1 P124S | ||
| BRAF del exon4-10 BRAF V600K |