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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, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon17 KIT A794E |
| 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_000222.2 | chr4:g.54733089C>A | c.2381C>A | p.A794E | RefSeq | GRCh38/hg38 |
| 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_001385285.1 | chr4:g.54733092_54733093delCCinsAG | c.2381_2382delCCinsAG | p.A794E | RefSeq | GRCh38/hg38 |
| NM_000222 | 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 |
| NM_001385290.1 | chr4:g.54733089C>A | c.2381C>A | p.A794E | RefSeq | GRCh38/hg38 |
| XM_005265741.1 | chr4:g.54733089C>A | c.2381C>A | p.A794E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KIT A794E | unknown |