Gene Variant Detail

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Gene KIT
Variant I371S
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions KIT I371S lies within Ig-like C2-type domain 4 of the Kit protein (UniProt.org). I371S results in SCF-induced Kit activation similar to wild-type protein in culture (PMID: 23020152), and therefore, is predicted to have no effect on Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT I371S

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Transcript NM_000222.3
gDNA chr4:g.54707284T>G
cDNA c.1112T>G
Protein p.I371S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38
NM_000222 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38
NM_001093772 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38
XM_017008180 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54707284T>G c.1112T>G p.I371S RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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Sorting

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