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Gene | BRAF |
Variant | D449Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF D449Y does not lie within any known functional domains of the Braf protein (UniProt.org). D449Y 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 D448Y (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 D449Y |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781663C>A |
cDNA | c.1345G>T |
Protein | p.D449Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354609.1 | chr7:g.140781663C>A | c.1345G>T | p.D449Y | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781663C>A | c.1345G>T | p.D449Y | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781663C>A | c.1345G>T | p.D449Y | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781663C>A | c.1345G>T | p.D449Y | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781663C>A | c.1345G>T | p.D449Y | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781663C>A | c.1345G>T | p.D449Y | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781663C>A | c.1345G>T | p.D449Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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