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Gene MLH1
Variant Q689R
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MLH1 Q689R lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). Q689R has no effect on the Mlh1 protein function as demonstrated by stable Pms2 and Mlh1 expression and functional mismatch repair activity in culture (PMID: 36054288) and in in vitro assays (PMID: 21404117, PMID: 17510385).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 Q689R

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Transcript NM_000249.4
gDNA chr3:g.37048980A>G
cDNA c.2066A>G
Protein p.Q689R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37048980A>G c.2066A>G p.Q689R RefSeq GRCh38/hg38
NM_000249 chr3:g.37048980A>G c.2066A>G p.Q689R RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37048980A>G c.2066A>G p.Q689R 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References