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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

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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
XM_005265161.2 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_001258271.1 chr3:g.36996701G>A c.199G>A p.G67R RefSeq GRCh38/hg38
NM_000249 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
XM_005265161 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
NM_001258271.2 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
XM_005265161.3 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_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
NM_001354630.2 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

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries