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| Gene | KIT |
| Variant | D820V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT D820V lies within the protein kinase domain of the Kit protein (UniProt.org). D820V has been identified as a secondary mutation associated with imatinib resistance (PMID: 18294292), 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 D820V |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54733167A>T |
| cDNA | c.2459A>T |
| Protein | p.D820V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005265741 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
| XM_005265741.1 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
| NM_001385290.1 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KIT D820V | unknown | KIT Inhibitor |
| KIT D816E KIT D820V | ||
| KIT W557_K558del KIT D816E KIT D820V | ||
| KIT W557_K558del KIT V654A KIT D820V |