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Gene MLH1
Variant W714*
Impact List nonsense
Protein Effect loss of function - predicted
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), and therefore, is predicted to lead to a loss of Mlh1 protein function.
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_000249.4 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

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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
MLH1 W714* loss of function - predicted