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| Gene | MLH1 |
| Variant | S685F |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MLH1 S685F lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). S685F has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Aug 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
MLH1 mutant MLH1 S685F |
| Transcript | NM_000249.4 |
| gDNA | chr3:g.37048968C>T |
| cDNA | c.2054C>T |
| Protein | p.S685F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |