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| Gene | KIT |
| Variant | Y646D |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT Y646D lies within the protein kinase domain of the Kit protein (UniProt.org). Y646D has been identified in sequencing studies (PMID: 34242401, PMID: 28734009), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon13 KIT Y646D |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54728067T>G |
| cDNA | c.1936T>G |
| Protein | p.Y646D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001385285.1 | chr4:g.54728067T>G | c.1936T>G | p.Y646D | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54728067T>G | c.1936T>G | p.Y646D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KIT Y646D | unknown |