PTEN T382A
Gene Variant Detail

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Gene PTEN
Variant T382A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN T382A does not lie within any known functional domains of the Pten protein (UniProt.org). T382A results in nuclear and membrane localization similar to wild-type Pten (PMID: 25823029, PMID: 17565999), but results in increased ubiquitination (PMID: 11431330), increased cell cycle arrest and transcriptional activation of FKHR, and retains the ability to undergo phosphorylation by Topk in an in vitro assay (PMID: 24012691) and the ability to respond to PIP2, but demonstrates reduced lipid phosphatase activity (PMID: 17565999), decreased Pten protein stability (PMID: 10866658, PMID: 11035045), and impaired nuclear localization in cell culture (PMID: 16807353), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN T382A

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Transcript NM_000314.8
gDNA chr10:g.87965404A>G
cDNA c.1144A>G
Protein p.T382A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87965404A>G c.1144A>G p.T382A RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87965404A>G c.1144A>G p.T382A RefSeq GRCh38/hg38

Filtering

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  • 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")

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