MLH1 Q701K
Gene Variant Detail

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Gene MLH1
Variant Q701K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 Q701K lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). The functional effect of Q701K is conflicting as it retains interaction with Pms2 (PMID: 18094436, PMID: 30504929) and nuclear localization in culture (PMID: 30504929), but results in reduced Mlh1 expression and altered subcellular localization in patient samples (PMID: 22136435), decreased interaction with Pms2 in a yeast assay (PMID: 18094436), and decreased mismatch repair activity in an in vitro assay (PMID: 30504929), and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 Q701K

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Transcript NM_000249.4
gDNA chr3:g.37049015C>A
cDNA c.2101C>A
Protein p.Q701K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37049015C>A c.2101C>A p.Q701K 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 Q701K unknown