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Gene PTEN
Variant T383A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN T383A does not lie within any known functional domains of the Pten protein (UniProt.org). The functional effect of T383A is conflicting, as it results in nuclear localization similar to wild-type Pten (PMID: 25823029), however, leads to increased nuclear localization (PMID: 16807353), and retains the ability to undergo phosphorylation by Topk (PMID: 24012691) and the ability to respond to PIP2, but demonstrates reduced lipid phosphatase activity, impaired membrane localization (PMID: 17565999), reduced protein stability, increased cell cycle arrest and FKHR transcriptional activation (PMID: 10866658, PMID: 11035045), and increased ubiquitination in culture (PMID: 11431330), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN T383A

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Transcript NM_000314.8
gDNA chr10:g.87965407A>G
cDNA c.1147A>G
Protein p.T383A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304717.5 chr10:g.87952253A>G c.1147A>G p.T383A RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87965407A>G c.1147A>G p.T383A RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87965407A>G c.1147A>G p.T383A 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")

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