KIT T670I - Gene Variant Detail

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Gene KIT
Variant T670I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT T670I lies within the ATP pocket in the protein kinase domain of the Kit protein (PMID: 15236194, PMID: 22355224). T670I confers a gain of function on Kit as indicated by constitutive Kit phosphorylation, is transforming in cultured cells, and is associated with resistance to Kit inhibitors (PMID: 17699867, PMID: 15236194).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT T670I

KIT mutant KIT exon14 KIT T670I

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Transcript NM_000222.3
gDNA chr4:g.54729353C>T
cDNA c.2009C>T
Protein p.T670I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178.1 chr4:g.54729353C>T c.2009C>T p.T670I RefSeq GRCh38/hg38
XM_017008178 chr4:g.54729353C>T c.2009C>T p.T670I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54729353C>T c.2009C>T p.T670I RefSeq GRCh38/hg38
NM_000222 chr4:g.54729353C>T c.2009C>T p.T670I RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54729353C>T c.2009C>T p.T670I RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54729353C>T c.2009C>T p.T670I RefSeq GRCh38/hg38

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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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04771520 Phase II Avapritinib Avapritinib for the Treatment of CKIT or PDGFRA Mutation-Positive Locally Advanced or Metastatic Malignant Solid Tumors Recruiting USA 0
NCT01738139 Phase I Imatinib + Ipilimumab Ipilimumab and Imatinib Mesylate in Advanced Cancer Completed USA 0