MLH1 V326A
Gene Variant Detail

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Gene MLH1
Variant V326A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 V326A lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). The functional effect of V326A is conflicting as it results in repression activity similar to wild-type Mlh1 in a yeast reporter assay, interaction with Pms2 similar to wild-type Mlh1 in a yeast two-hybrid assay, and mismatch repair (MMR) similar to wild-type in one study (PMID: 11781295), but results in decreased Exo1 interaction in a yeast two-hybrid assay, decreased Pms2 binding in an in vitro assay (PMID: 12810663), and decreased MMR activity in an in vitro assay in another study (PMID: 17510385), and therefore, its effect on Mlh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 V326A

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Transcript NM_000249.4
gDNA chr3:g.37020402T>C
cDNA c.977T>C
Protein p.V326A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37020402T>C c.977T>C p.V326A RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37020402T>C c.977T>C p.V326A RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37020402T>C c.977T>C p.V326A RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37020402T>C c.977T>C p.V326A RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37020402T>C c.977T>C p.V326A RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37020402T>C c.977T>C p.V326A RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37020402T>C c.977T>C p.V326A RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37020402T>C c.977T>C p.V326A RefSeq GRCh38/hg38

Filtering

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  • 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")

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