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Gene MLH1
Variant K195*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions MLH1 K195* results in a premature truncation of the Mlh1 protein at amino acid 195 of 756 (PMID: 22753075). K195* confers a loss of function to the Mlh1 protein due to the loss of the C-terminal domain (PMID: 16338176), loss of protein expression compared to wild-type in culture, and loss of mismatch repair activity in an in vitro assay (PMID: 25477341).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 K195*

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Transcript NM_000249.4
gDNA chr3:g.37011857A>T
cDNA c.583A>T
Protein p.K195*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37011857A>T c.583A>T p.K195* RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37011857A>T c.583A>T p.K195* RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37011857A>T c.583A>T p.K195* RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37011857A>T c.583A>T p.K195* RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37011857A>T c.583A>T p.K195* RefSeq GRCh38/hg38

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  • 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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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries