Gene Variant Detail

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Gene MLH1
Variant S247P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 S247P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). S247P confers a loss of function to the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in-vitro assay (PMID: 16083711), altered subcellular localization, and reduced protein expression as compared to wild-type (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 S247P

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Transcript NM_000249.3
gDNA chr3:g.37014493T>C
cDNA c.739T>C
Protein p.S247P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_001258271 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_000249 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37014493T>C c.739T>C p.S247P RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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