Gene Variant Detail

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Gene KIT
Variant V560G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT V560G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 9438854). V560G confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit and activation of the Jak/Stat pathway (PMID: 7691885, PMID: 23777495, PMID: 31484543), and leads to mislocalization of Kit to endolysosomes in cell culture (PMID: 31484543).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT V560G

KIT mutant KIT exon11 KIT V560G

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Transcript NM_000222.3
gDNA chr4:g.54727447T>G
cDNA c.1679T>G
Protein p.V560G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265740.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_000222 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries