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| Gene | KIT |
| Variant | N567K |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT N567K lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). N567K has been identified in sequencing studies (PMID: 15217946), 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 N567K |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727469T>G |
| cDNA | c.1701T>G |
| Protein | p.N567K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005265741 | chr4:g.54727466C>G | c.1701C>G | p.N567K | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727469T>G | c.1701T>G | p.N567K | RefSeq | GRCh38/hg38 |
| XM_005265741.1 | chr4:g.54727466C>G | c.1701C>G | p.N567K | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727469T>G | c.1701T>G | p.N567K | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54727469T>G | c.1701T>G | p.N567K | RefSeq | GRCh38/hg38 |
| XM_005265740.1 | chr4:g.54727466C>G | c.1701C>G | p.N567K | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54727469T>G | c.1701T>G | p.N567K | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727469T>G | c.1701T>G | p.N567K | RefSeq | GRCh38/hg38 |
| NM_001385290.1 | chr4:g.54727466C>G | c.1701C>G | p.N567K | RefSeq | GRCh38/hg38 |
| NM_001385284.1 | chr4:g.54727466C>G | c.1701C>G | p.N567K | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727469T>G | c.1701T>G | p.N567K | RefSeq | GRCh38/hg38 |
| XM_005265740 | chr4:g.54727466C>G | c.1701C>G | p.N567K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KIT N567K | unknown |