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Gene | MLH1 |
Variant | I25F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 I25F lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). The functional effect of I25F is conflicting as it results in mismatch repair (MMR) activity comparable to wild-type Mlh1 in yeast assays (PMID: 17510385), but in another study results in increased mutation rate in yeast assays (PMID: 17210669) and decreased MMR activity in an in vitro assay (PMID: 17510385). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 I25F |
Transcript | NM_000249.4 |
gDNA | chr3:g.36993620A>T |
cDNA | c.73A>T |
Protein | p.I25F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271.2 | chr3:g.36993620A>T | c.73A>T | p.I25F | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.36993620A>T | c.73A>T | p.I25F | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.36993620A>T | c.73A>T | p.I25F | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.36993620A>T | c.73A>T | p.I25F | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.36993620A>T | c.73A>T | p.I25F | RefSeq | GRCh38/hg38 |
NM_001354629.2 | chr3:g.36993620A>T | c.73A>T | p.I25F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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