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| Gene | BRAF |
| Variant | K499N |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRAF K499N lies within the protein kinase domain of the Braf protein (UniProt.org). K449N results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF K499N |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140778011T>G |
| cDNA | c.1497A>C |
| Protein | p.K499N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005250045 | chr7:g.140778011T>G | c.1497A>C | p.K499N | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140778011T>G | c.1497A>C | p.K499N | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140778011T>G | c.1497A>C | p.K499N | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140778011T>G | c.1497A>C | p.K499N | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140778011T>G | c.1497A>C | p.K499N | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140778011T>G | c.1497A>C | p.K499N | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140778011T>G | c.1497A>C | p.K499N | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140778011T>G | c.1497A>C | p.K499N | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140778011T>G | c.1497A>C | p.K499N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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