Gene Variant Detail

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Gene MLH1
Variant N338S
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MLH1 N338S lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). N338S retains mismatch repair activity relative to wild-type Mlh1 in in vitro assays (PMID: 29520894), and results in protein stabiility, DNA damage response signaling, and DNA repair activity similar to wild-type Mlh1 in cultured cells (PMID: 36054288), and therefore, is predicted to have no effect on Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 N338S

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Transcript NM_000249.4
gDNA chr3:g.37020438A>G
cDNA c.1013A>G
Protein p.N338S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.37020438A>G c.1013A>G p.N338S RefSeq GRCh38/hg38
NM_000249 chr3:g.37020438A>G c.1013A>G p.N338S RefSeq GRCh38/hg38
NM_001258271 chr3:g.37020438A>G c.1013A>G p.N338S RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37020438A>G c.1013A>G p.N338S RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37020438A>G c.1013A>G p.N338S RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37020438A>G c.1013A>G p.N338S RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37020438A>G c.1013A>G p.N338S RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37020438A>G c.1013A>G p.N338S RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37020438A>G c.1013A>G p.N338S RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37020438A>G c.1013A>G p.N338S 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries