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Gene KIT
Variant V530I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT V530I lies within the transmembrane domain of the Kit protein (PMID: 16081693). V530I confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit and activation of Akt, Mapk, Stat3, and Stat5 in cell culture (PMID: 16081693).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT V530I

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Transcript NM_000222.3
gDNA chr4:g.54727265G>A
cDNA c.1588G>A
Protein p.V530I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727265G>A c.1588G>A p.V530I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727265G>A c.1588G>A p.V530I RefSeq GRCh38/hg38
NM_000222 chr4:g.54727265G>A c.1588G>A p.V530I RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727265G>A c.1588G>A p.V530I RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727265G>A c.1588G>A p.V530I RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727265G>A c.1588G>A p.V530I 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 )
  • 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References