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Gene | MLH1 |
Variant | K443Q |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | MLH1 K443Q lies within the EXO1-interacting region of the Mlh1 protein (PMID: 22753075). K443Q is predicted to be benign by in silico analyses (PMID: 20020535, PMID: 22753075) and has mismatch repair (MMR) activity similar to wild-type Mlh1 (PMID: 16083711, PMID: 20020535, PMID: 21120944) in in vitro assays. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 K443Q |
Transcript | NM_000249.4 |
gDNA | chr3:g.37025925A>C |
cDNA | c.1327A>C |
Protein | p.K443Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.3 | chr3:g.37025925A>C | c.1327A>C | p.K443Q | RefSeq | GRCh38/hg38 |
NM_001258271.1 | chr3:g.37025925A>C | c.1327A>C | p.K443Q | RefSeq | GRCh38/hg38 |
NM_001354628.2 | chr3:g.37025925A>C | c.1327A>C | p.K443Q | RefSeq | GRCh38/hg38 |
NM_000249.4 | chr3:g.37025925A>C | c.1327A>C | p.K443Q | RefSeq | GRCh38/hg38 |
NM_001354630.1 | chr3:g.37025925A>C | c.1327A>C | p.K443Q | RefSeq | GRCh38/hg38 |
NM_000249 | chr3:g.37025925A>C | c.1327A>C | p.K443Q | RefSeq | GRCh38/hg38 |
NM_001258271 | chr3:g.37025925A>C | c.1327A>C | p.K443Q | RefSeq | GRCh38/hg38 |
NM_001258271.2 | chr3:g.37025925A>C | c.1327A>C | p.K443Q | RefSeq | GRCh38/hg38 |
NM_001354628.1 | chr3:g.37025925A>C | c.1327A>C | p.K443Q | RefSeq | GRCh38/hg38 |
NM_001354630.2 | chr3:g.37025925A>C | c.1327A>C | p.K443Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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