Gene Variant Detail

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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_000314.6
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

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