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| Gene | MSH6 |
| Variant | F1088Lfs*5 |
| Impact List | frameshift |
| Protein Effect | unknown |
| Gene Variant Descriptions | MSH6 F1088Lfs*5 indicates a shift in the reading frame starting at amino acid 1088 and terminating 5 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). F1088Lfs*5 has been identified in the scientific literature (PMID: 30877237, PMID: 30387329, PMID: 36091175), 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 F1088fs MSH6 F1088Lfs*5 |
| Transcript | NM_000179.3 |
| gDNA | chr2:g.47803510_47803511insA |
| cDNA | c.3263_3264insA |
| Protein | p.F1088Lfs*5 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000179.2 | chr2:g.47803510_47803511insA | c.3263_3264insA | p.F1088Lfs*5 | RefSeq | GRCh38/hg38 |
| NM_000179.3 | chr2:g.47803510_47803511insA | c.3263_3264insA | p.F1088Lfs*5 | RefSeq | GRCh38/hg38 |
| NM_001406809.1 | chr2:g.47803510_47803511insA | c.3263_3264insA | p.F1088Lfs*5 | RefSeq | GRCh38/hg38 |
| NM_001406796.1 | chr2:g.47803510_47803511insA | c.3263_3264insA | p.F1088Lfs*5 | RefSeq | GRCh38/hg38 |
| NM_001406800.1 | chr2:g.47803510_47803511insA | c.3263_3264insA | p.F1088Lfs*5 | RefSeq | GRCh38/hg38 |
| NM_001406808.1 | chr2:g.47803510_47803511insA | c.3263_3264insA | p.F1088Lfs*5 | RefSeq | GRCh38/hg38 |
| XM_024452819.1 | chr2:g.47803510_47803511insA | c.3263_3264insA | p.F1088Lfs*5 | RefSeq | GRCh38/hg38 |
| NM_000179 | chr2:g.47803507_47803508insG | c.3260_3261insG | p.F1088Lfs*5 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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