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Gene KIT
Variant C809G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT C809G lies within the protein kinase domain of the Kit protein (UniProt.org). C809G has been associated with secondary resistance to select KIT inhibitors (PMID: 16954519), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT exon17 KIT C809G

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Transcript NM_000222.3
gDNA chr4:g.54733133T>G
cDNA c.2425T>G
Protein p.C809G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54733133T>G c.2425T>G p.C809G RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733133T>G c.2425T>G p.C809G RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733133T>G c.2425T>G p.C809G RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733133T>G c.2425T>G p.C809G RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733133T>G c.2425T>G p.C809G RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733133T>G c.2425T>G p.C809G 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT C809G Advanced Solid Tumor predicted - resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, KIT C809G was resistant to inhibition of phosphorylation by Gleevec (imatinib) in cultured cells (PMID: 16954519). 16954519