MLH1 W714*
Gene Variant Detail

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Gene MLH1
Variant W714*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions MLH1 W714* results in a premature truncation of the Mlh1 protein at amino acid 714 of 756 (UniProt.org). W714* results in loss of interaction with Pms2 and Exo1 in a yeast two hybrid assay (PMID: 12810663), decreased Mlh1 expression in yeast, and loss of mismatch repair activity in a yeast assay (PMID: 17510385).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 W714*

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Transcript NM_000249.4
gDNA chr3:g.37050523G>A
cDNA c.2141G>A
Protein p.W714*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.3 chr3:g.37050523G>A c.2141G>A p.W714* RefSeq GRCh38/hg38
NM_000249 chr3:g.37050523G>A c.2141G>A p.W714* RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37050523G>A c.2141G>A p.W714* 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 )
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  • 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