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Gene PTEN
Variant R173H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN R173H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R173H correlates with wild-type Pten phenotype in a gene expression profile analysis (PMID: 27147599) and leads to normal developmental growth in flies, but fails to suppress Akt phosphorylation in cell culture (PMID: 32350270), demonstrates reduced Pten protein stability (PMID: 32366478, PMID: 32350270), results in a loss of Pten phosphatase activity in an in vitro assay (PMID: 10866302), partial loss of ability to rescue spheroid formation (PMID: 32366478), and is associated with increased copy number variation in patient samples (PMID: 24721394), and therefore, is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN R173H

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Transcript NM_000314.8
gDNA chr10:g.87952143G>A
cDNA c.518G>A
Protein p.R173H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87952143G>A c.518G>A p.R173H RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87952143G>A c.518G>A p.R173H RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87952143G>A c.518G>A p.R173H 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries