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Gene | BRAF |
Variant | G563D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRAF G563D lies within the protein kinase domain of the Braf protein (UniProt.org). G563D has not been biochemically characterized, but demonstrates decreased transformation ability in cell culture compared (PMID: 29533785), and therefore, is predicted to lead to a loss of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF inact mut BRAF G563D |
Transcript | NM_004333.6 |
gDNA | chr7:g.140776918C>T |
cDNA | c.1688G>A |
Protein | p.G563D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047420769.1 | chr7:g.140776918C>T | c.1688G>A | p.G563D | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140776918C>T | c.1688G>A | p.G563D | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140776918C>T | c.1688G>A | p.G563D | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140753290_140753291delGAinsAC | c.1688_1689delGAinsAC | p.G563D | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140753290_140753291delGAinsAC | c.1688_1689delGAinsAC | p.G563D | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140776918C>T | c.1688G>A | p.G563D | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140776918C>T | c.1688G>A | p.G563D | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140776918C>T | c.1688G>A | p.G563D | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140776918C>T | c.1688G>A | p.G563D | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140776918C>T | c.1688G>A | p.G563D | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140776918C>T | c.1688G>A | p.G563D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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