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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, Jul 2025). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
KIT mutant KIT exon17 KIT C809G |
| 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 |
|---|---|---|---|---|---|
| XM_005265741.1 | 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 |
| NM_000222.2 | chr4:g.54733133T>G | c.2425T>G | p.C809G | RefSeq | GRCh38/hg38 |
| NM_000222 | 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 |
| NM_001385290.1 | chr4:g.54733133T>G | c.2425T>G | p.C809G | RefSeq | GRCh38/hg38 |
| 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 |