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| Gene | BRAF |
| Variant | R347* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | BRAF R347* results in a premature truncation of the Braf protein at amino acid 347 of 766 (UniProt.org). Due to the loss of a portion of the protein kinase domain (UniProt.org), R347* is predicted to lead to a loss of Braf protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF inact mut BRAF R347* |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140794409G>A |
| cDNA | c.1039C>T |
| Protein | p.R347* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378468.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| XM_017012559.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| NM_001378471.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| NM_001374244.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| XM_017012559 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| NM_001378469.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| XM_047420767.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| XM_047420768.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| XM_017012558.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| XM_017012559.2 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| NM_001378475.1 | chr7:g.140783031_140783032delAGinsTA | c.1039_1040delAGinsTA | p.R347* | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| XM_017012558 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| NM_001374258.1 | chr7:g.140794409G>A | c.1039C>T | p.R347* | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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