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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

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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_001378467.1 chr7:g.140781675C>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_001354609.2 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
XM_047420769.1 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_001378474.1 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries