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Gene KIT
Variant D572G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D572G lies within the cytoplasmic domain of the Kit protein (UniProt.org). D572G confers a gain of function to the Kit protein as indicated by increased JAK/STAT and NF-kappaB signaling in an in vitro assay (PMID: 29464843).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT D572G

KIT mutant KIT exon11 KIT D572G

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Transcript NM_000222.3
gDNA chr4:g.54727483A>G
cDNA c.1715A>G
Protein p.D572G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727483A>G c.1715A>G p.D572G RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727483A>G c.1715A>G p.D572G RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727483A>G c.1715A>G p.D572G RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727483A>G c.1715A>G p.D572G 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")

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