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| Gene | BRAF |
| Variant | D448Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRAF D448Y does not lie within any known functional domains of the Braf protein (UniProt.org). D448Y results in decreased sensitivity of Braf homodimers to drug-mediated disruption, and activation of truncated Braf dimers comparable to the wild-type protein in an in vitro assay in combination with D449Y (PMID: 30559419), but has not been individually characterized and therefore, its effect on Braf protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF D448Y |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140781666C>A |
| cDNA | c.1342G>T |
| Protein | p.D448Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378474.1 | chr7:g.140781666C>A | c.1342G>T | p.D448Y | RefSeq | GRCh38/hg38 |
| NM_001378467.1 | chr7:g.140781675C>A | c.1342G>T | p.D448Y | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140781666C>A | c.1342G>T | p.D448Y | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140781666C>A | c.1342G>T | p.D448Y | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140781666C>A | c.1342G>T | p.D448Y | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140781666C>A | c.1342G>T | p.D448Y | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140781666C>A | c.1342G>T | p.D448Y | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140781666C>A | c.1342G>T | p.D448Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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