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| Gene | MSH6 |
| Variant | K1014del |
| Impact List | deletion |
| Protein Effect | unknown |
| Gene Variant Descriptions | MSH6 K1014del results in the deletion of an amino acid in the lever domain of the Msh6 protein at amino acid 1014 (PMID: 17531815). K1014del has been identified in the scientific literature (PMID: 29875428, PMID: 36260514), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
MSH6 mutant MSH6 K1014del |
| Transcript | NM_000179.3 |
| gDNA | chr2:g.47801023_47801025delAAG |
| cDNA | c.3040_3042delAAG |
| Protein | p.K1014del |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001406798.1 | chr2:g.47801023_47801025delAAG | c.3040_3042delAAG | p.K1014delK | RefSeq | GRCh38/hg38 |
| NM_001406796.1 | chr2:g.47801023_47801025delAAG | c.3040_3042delAAG | p.K1014delK | RefSeq | GRCh38/hg38 |
| NM_001406800.1 | chr2:g.47801023_47801025delAAG | c.3040_3042delAAG | p.K1014delK | RefSeq | GRCh38/hg38 |
| NM_001406808.1 | chr2:g.47801023_47801025delAAG | c.3040_3042delAAG | p.K1014delK | RefSeq | GRCh38/hg38 |
| NM_000179.3 | chr2:g.47801023_47801025delAAG | c.3040_3042delAAG | p.K1014del | RefSeq | GRCh38/hg38 |
| NM_000179.3 | chr2:g.47801023_47801025delAAG | c.3040_3042delAAG | p.K1014delK | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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