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| Gene | KIT |
| Variant | K558delinsNP |
| Impact List | indel |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT K558delinsNP results in a deletion of lysine (K) at amino acid 558 within the juxtamembrane domain (exon 11) of the Kit protein, combined with the insertion of an asparagine (N) and a proline (P) at the same location (PMID: 16226710). K558delinsNP has been identified in the scientific literature (PMID: 11526490, PMID: 25239608, PMID: 20651400), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Dec 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon11 KIT K558delinsNP |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54727440_54727442delinsAACCCT |
| cDNA | c.1672_1674delinsAACCCT |
| Protein | p.K558_558delinsNP |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222.2 | chr4:g.54727440_54727442delinsAACCCT | c.1672_1674delinsAACCCT | p.K558_558delinsNP | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54727440_54727442delinsAACCCT | c.1672_1674delinsAACCCT | p.K558_558delinsNP | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54727440_54727442delinsAACCCT | c.1672_1674delinsAACCCT | p.K558_558delinsNP | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54727440_54727442delinsAACCCT | c.1672_1674delinsAACCCT | p.K558_558delinsNP | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54727440_54727442delinsAACCCT | c.1672_1674delinsAACCCT | p.K558_558delinsNP | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54727440_54727442delinsAACCCT | c.1672_1674delinsAACCCT | p.K558_558delinsNP | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| KIT K558delinsNP | Advanced Solid Tumor | sensitive | Ponatinib | Preclinical | Actionable | In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608). | 25239608 |
| KIT K558delinsNP | Advanced Solid Tumor | sensitive | Sunitinib | Preclinical | Actionable | In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608). | 25239608 |
| KIT K558delinsNP | Advanced Solid Tumor | sensitive | Imatinib | Preclinical | Actionable | In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608). | 25239608 |
| KIT K558delinsNP | Advanced Solid Tumor | sensitive | Regorafenib | Preclinical | Actionable | In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Stivarga (regorafenib) in culture, resulting in reduced cell viability (PMID: 25239608). | 25239608 |