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| Gene | BRAF |
| Variant | I463S |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | BRAF I463S lies within the protein kinase domain of the Braf protein (UniProt.org). I463S results in an intermediate increase in Braf kinase activity compared to wild-type Braf and increased Erk activation in cell culture (PMID: 15035987). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF I463S BRAF mutant BRAF I463X BRAF I463S |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140781620A>C |
| cDNA | c.1388T>G |
| Protein | p.I463S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378474.1 | chr7:g.140781620A>C | c.1388T>G | p.I463S | RefSeq | GRCh38/hg38 |
| NM_001378475.1 | chr7:g.140776954A>C | c.1388T>G | p.I463S | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140781620A>C | c.1388T>G | p.I463S | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140781620A>C | c.1388T>G | p.I463S | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140781620A>C | c.1388T>G | p.I463S | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140781620A>C | c.1388T>G | p.I463S | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140781620A>C | c.1388T>G | p.I463S | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140781620A>C | c.1388T>G | p.I463S | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140781620A>C | c.1388T>G | p.I463S | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140781620A>C | c.1388T>G | p.I463S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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