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Gene MLH1
Variant A42V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 A42V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). The functional effect of A42V is conflicting as it results in decreased mismatch repair (MMR) activity in a yeast assay (PMID: 15475387), reduced Pms2 and Mlh1 expression and altered splicing, but leads to normal MMR activity in culture (PMID: 36054288).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 A42V

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Transcript NM_000249.4
gDNA chr3:g.36996627C>T
cDNA c.125C>T
Protein p.A42V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.36996627C>T c.125C>T p.A42V RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36996627C>T c.125C>T p.A42V RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36996627C>T c.125C>T p.A42V RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36996627C>T c.125C>T p.A42V RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36996627C>T c.125C>T p.A42V RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36996627C>T c.125C>T p.A42V 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")

Sorting

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