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Gene PTEN
Variant H93R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN H93R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H93R results in phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076), however, results in reduced catalytic activity (PMID: 25647146, PMID: 20718038), decreased suppression of TH (PMID: 26579216), enhanced membrane association and increased binding affinity to phosphatidylserine (PMID: 22505997, PMID: 20718038), and demonstrates reduced ability to dephosphorylate PIP3 in culture and is not able to rescue neuronal hypertrophy and pS6 signaling in PTEN-null animal models (PMID: 29373119), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN H93R

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Transcript NM_000314.8
gDNA chr10:g.87933037A>G
cDNA c.278A>G
Protein p.H93R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304717 chr10:g.87864228A>G c.278A>G p.H93R RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933037A>G c.278A>G p.H93R RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87864228A>G c.278A>G p.H93R RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933037A>G c.278A>G p.H93R RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864228A>G c.278A>G p.H93R RefSeq GRCh38/hg38
NM_000314 chr10:g.87933037A>G c.278A>G p.H93R RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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