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Gene MLH1
Variant L676R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 L676R lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L676R results in loss of Mlh1 protein expression compared to wild-type in culture and loss of mismatch repair activity in yeast assays (PMID: 17510385) and in in vitro assays (PMID: 17510385, PMID: 23403630).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 L676R

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Transcript NM_000249.4
gDNA chr3:g.37048941T>G
cDNA c.2027T>G
Protein p.L676R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37048941T>G c.2027T>G p.L676R 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
MLH1 L676R loss of function