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Gene | MLH1 |
Variant | G65D |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 G65D lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). G65D retains interaction with Pms2 in culture (PMID: 18094436) but results in loss of protein expression compared to wild-type Mlh1 in culture and loss of mismatch repair activity in an in vitro assay (PMID: 23403630) and in a yeast assay (PMID: 15475387). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 G65D |
Transcript | NM_000249.4 |
gDNA | chr3:g.36996696G>A |
cDNA | c.194G>A |
Protein | p.G65D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354629.2 | chr3:g.36996696G>A | c.194G>A | p.G65D | RefSeq | GRCh38/hg38 |
XM_005265161.3 | chr3:g.36996696G>A | c.194G>A | p.G65D | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.36996696G>A | c.194G>A | p.G65D | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.36996696G>A | c.194G>A | p.G65D | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.36996696G>A | c.194G>A | p.G65D | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.36996696G>A | c.194G>A | p.G65D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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