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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, Apr 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 |