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Gene | MSH6 |
Variant | L979V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 L979V lies within the clamp domain of the Msh6 protein (PMID: 17531815). L979V has been identified in sequencing studies (PMID: 22810696), 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 L979V |
Transcript | NM_000179.3 |
gDNA | chr2:g.47800918C>G |
cDNA | c.2935C>G |
Protein | p.L979V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |