Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | MLH1 |
| Variant | P709Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MLH1 P709Q lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). P709Q has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
MLH1 mutant MLH1 P709Q |
| Transcript | NM_000249.4 |
| gDNA | chr3:g.37050508C>A |
| cDNA | c.2126C>A |
| Protein | p.P709Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000249 | chr3:g.37050508C>A | c.2126C>A | p.P709Q | RefSeq | GRCh38/hg38 |
| NM_000249.4 | chr3:g.37050508C>A | c.2126C>A | p.P709Q | RefSeq | GRCh38/hg38 |
| NM_000249.3 | chr3:g.37050508C>A | c.2126C>A | p.P709Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|