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| Gene | BRAF |
| Variant | E451K |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRAF E451K does not lie within any known functional domains of the Braf protein (UniProt.org). E451K results in a slight increase of Erk phosphorylation in culture (PMID: 31158244). 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 E451K |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140781657C>T |
| cDNA | c.1351G>A |
| Protein | p.E451K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004333.5 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| BRAF E451K | breast cancer | predicted - resistant | Dabrafenib | Preclinical | Actionable | In a preclinical study, Tafinlar (dabrafenib) treatment resulted in increased Erk phosphorylation in breast cancer cells expressing BRAF E451K in culture (PMID: 31158244). | 31158244 |