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Gene KIT
Variant G664R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KIT G664R lies within the protein kinase domain of the Kit protein (UniProt.org). G664R results in a loss of Kit autophosphorylation, reduced phosphorylation upon ligand stimulation as compared to wild-type Kit in cell culture, and decreased downstream signaling, as demonstrated by reduced phosphorylation of Erk1/2 in patient samples (PMID: 20824047).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon13 KIT G664R

KIT mutant KIT exon14 KIT G664R

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Transcript NM_000222.3
gDNA chr4:g.54728121G>A
cDNA c.1990G>A
Protein p.G664R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54728118G>A c.1990G>A p.G664R RefSeq GRCh38/hg38
XM_005265740 chr4:g.54728118G>A c.1990G>A p.G664R RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54728118G>A c.1990G>A p.G664R RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54728118G>A c.1990G>A p.G664R RefSeq GRCh38/hg38
XM_017008178 chr4:g.54728121G>A c.1990G>A p.G664R RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54728118G>A c.1990G>A p.G664R RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54728121G>A c.1990G>A p.G664R RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54728118G>A c.1990G>A p.G664R RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54728121G>A c.1990G>A p.G664R RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54728121G>A c.1990G>A p.G664R RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54728121G>A c.1990G>A p.G664R RefSeq GRCh38/hg38
NM_000222 chr4:g.54728121G>A c.1990G>A p.G664R RefSeq GRCh38/hg38

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