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| Gene | MLH1 |
| Variant | D737V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MLH1 D737V lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). D737V has been identified in sequencing studies (PMID: 23760103, PMID: 16341550), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
MLH1 mutant MLH1 D737V |
| Transcript | NM_000249.4 |
| gDNA | chr3:g.37050592A>T |
| cDNA | c.2210A>T |
| Protein | p.D737V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000249.3 | chr3:g.37050592A>T | c.2210A>T | p.D737V | RefSeq | GRCh38/hg38 |
| NM_000249.4 | chr3:g.37050592A>T | c.2210A>T | p.D737V | RefSeq | GRCh38/hg38 |
| NM_000249 | chr3:g.37050592A>T | c.2210A>T | p.D737V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| MLH1 D737V | unknown |