Gene Variant Detail

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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

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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_001354628.1 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_001354630.1 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_000249.4 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_001258271 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
NM_000249.3 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References