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Gene PMS2
Variant T511M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PMS2 T511M does not lie within any known functional domains of the Pms2 protein (UniProt.org). T511M demonstrates reduced mismatch repair (MMR) activity compared to wild-type Pms2, but higher MMR activity compared to a Pms2 deficient control in an in vitro assay (PMID: 24027009), and therefore, its effect on Pms2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PMS2 mutant PMS2 T511M

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Transcript NM_000535.7
gDNA chr7:g.5987233G>A
cDNA c.1532C>T
Protein p.T511M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000535.6 chr7:g.5987233G>A c.1532C>T p.T511M RefSeq GRCh38/hg38
NM_001406872.1 chr7:g.5987233G>A c.1532C>T p.T511M RefSeq GRCh38/hg38
NM_000535 chr7:g.5987233G>A c.1532C>T p.T511M RefSeq GRCh38/hg38
NM_001322014.1 chr7:g.5987233G>A c.1532C>T p.T511M RefSeq GRCh38/hg38
NM_001406871.1 chr7:g.5987233G>A c.1532C>T p.T511M RefSeq GRCh38/hg38
NM_000535.7 chr7:g.5987233G>A c.1532C>T p.T511M RefSeq GRCh38/hg38
NM_001322014 chr7:g.5987233G>A c.1532C>T p.T511M RefSeq GRCh38/hg38
NM_001322014.2 chr7:g.5987233G>A c.1532C>T p.T511M RefSeq GRCh38/hg38

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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