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| Gene | KIT |
| Variant | N566D |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT N566D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). N566D has been identified in sequencing studies (PMID: 16908931, PMID: 20651400), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon11 KIT N566D |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727464A>G |
| cDNA | c.1696A>G |
| Protein | p.N566D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727464A>G | c.1696A>G | p.N566D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KIT N566D | unknown |