Gene Variant Detail

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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

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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
NM_004333.6 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_001354609.1 chr7:g.140776918C>T c.1688G>A p.G563D RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140776918C>T c.1688G>A p.G563D RefSeq GRCh38/hg38
XM_047420769.1 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
NM_001354609.2 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
XM_005250045 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_001378473.1 chr7:g.140753290_140753291delGAinsAC c.1688_1689delGAinsAC p.G563D RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References