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Gene | MLH1 |
Variant | G67R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 G67R lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). G67R confers a loss of function to the Mlh1 protein as demonstrated by a reduced expression of Pms2 and Mlh1 in culture, loss of mismatch repair activity (MMR) in culture (PMID: 36054288) and in in vitro assays (PMID: 20020535, PMID: 17510385, PMID: 31881334), altered subcellular localization, and reduced protein expression compared to wild-type Mlh1 (PMID: 21120944). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 G67R |
Transcript | NM_000249.4 |
gDNA | chr3:g.36996701G>A |
cDNA | c.199G>A |
Protein | p.G67R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
XM_005265161 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
XM_005265161.2 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
NM_001354629.1 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
NM_001354629.2 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.36996701G>A | c.199G>A | p.G67R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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