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| Gene | KIT |
| Variant | K558E |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT K558E lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). K558E has been identified in sequencing studies (PMID: 21387320, PMID: 21326036, PMID: 19264228), 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 K558E |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727440A>G |
| cDNA | c.1672A>G |
| Protein | p.K558E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222 | chr4:g.54727440A>G | c.1672A>G | p.K558E | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727440A>G | c.1672A>G | p.K558E | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727440A>G | c.1672A>G | p.K558E | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727440A>G | c.1672A>G | p.K558E | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727440A>G | c.1672A>G | p.K558E | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54727440A>G | c.1672A>G | p.K558E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|