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| Gene | BRAF |
| Variant | V169_G327del |
| Impact List | deletion |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | BRAF V169_G327del results in the deletion of 159 amino acids of the Braf protein from amino acids 169 to 327 (UniProt.org). V169_G327del (reported as internal deletion of exons 4-7) has not been characterized, however, due to the deletion of the CR1 autoinhibitory domain and preservation of the protein kinase domain (PMID: 23890088, PMID: 22113612, PMID: 29171936), is predicted to lead to a gain of Braf protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF V169_G327del |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140794468_140808996del14529 |
| cDNA | c.505_981del14529 |
| Protein | p.V169_G327del159 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378468.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| NM_001378471.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| XM_017012558.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| XM_017012558 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| XM_047420767.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| NM_001374258.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| XM_047420768.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| XM_017012559 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| XM_017012559.2 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| NM_001374244.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| XM_017012559.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| NM_001378469.1 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140794468_140808996del14529 | c.505_981del14529 | p.V169_G327del159 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|