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| Gene | MLH1 |
| Variant | I565T |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MLH1 I565T lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). I565T retains methylation sensitivity in culture (PMID: 30998989), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
MLH1 mutant MLH1 I565T |
| Transcript | NM_000249.4 |
| gDNA | chr3:g.37042294T>C |
| cDNA | c.1694T>C |
| Protein | p.I565T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001354628.2 | chr3:g.37042294T>C | c.1694T>C | p.I565T | RefSeq | GRCh38/hg38 |
| NM_001258271.2 | chr3:g.37042294T>C | c.1694T>C | p.I565T | RefSeq | GRCh38/hg38 |
| NM_001354630.2 | chr3:g.37042294T>C | c.1694T>C | p.I565T | RefSeq | GRCh38/hg38 |
| NM_000249.4 | chr3:g.37042294T>C | c.1694T>C | p.I565T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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