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Gene KIT
Variant R804W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT R804W lies within the activation loop in the kinase domain of the Kit protein (PMID: 21478825). R804W is predicted to have lower binding affinity for imatinib relative to wild-type Kit protein (PMID: 20140688), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon17 KIT R804W

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Transcript NM_000222.3
gDNA chr4:g.54733118C>T
cDNA c.2410C>T
Protein p.R804W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741.1 chr4:g.54733118C>T c.2410C>T p.R804W RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733118C>T c.2410C>T p.R804W RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733118C>T c.2410C>T p.R804W RefSeq GRCh38/hg38
NM_000222 chr4:g.54733118C>T c.2410C>T p.R804W RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733118C>T c.2410C>T p.R804W RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733118C>T c.2410C>T p.R804W 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 )
  • 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