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Gene | MLH1 |
Variant | S420C |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MLH1 S420C lies within the EXO1-interacting region of the Mlh1 protein (PMID: 22753075). S420C results in mismatch repair activity comparable to wild-type in yeast assays and in an in vitro assay (PMID: 17510385), and therefore, is predicted to have no effect on Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 S420C |
Transcript | NM_000249.4 |
gDNA | chr3:g.37025857C>G |
cDNA | c.1259C>G |
Protein | p.S420C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001258271.2 | chr3:g.37025857C>G | c.1259C>G | p.S420C | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37025857C>G | c.1259C>G | p.S420C | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37025857C>G | c.1259C>G | p.S420C | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37025857C>G | c.1259C>G | p.S420C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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