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Gene KIT
Variant A794E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT A794E lies within the protein kinase domain of the Kit protein (UniProt.org). A794E has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon17 KIT A794E

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Transcript NM_000222.3
gDNA chr4:g.54733089C>A
cDNA c.2381C>A
Protein p.A794E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54733089C>A c.2381C>A p.A794E RefSeq GRCh38/hg38
XM_017008178 chr4:g.54733092_54733093delCCinsAG c.2381_2382delCCinsAG p.A794E RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733089C>A c.2381C>A p.A794E RefSeq GRCh38/hg38
NM_000222 chr4:g.54733089C>A c.2381C>A p.A794E RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733089C>A c.2381C>A p.A794E RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54733092_54733093delCCinsAG c.2381_2382delCCinsAG p.A794E RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733089C>A c.2381C>A p.A794E RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733089C>A c.2381C>A p.A794E RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54733092_54733093delCCinsAG c.2381_2382delCCinsAG p.A794E RefSeq GRCh38/hg38

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries