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Gene PTEN
Variant I135R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN I135R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I135R results in reduced phosphatase activity in a yeast assay (PMID: 29706350) and cell culture (PMID: 32150788), decreased Pten protein expression and stability, reduced ability to suppress Akt phosphorylation, and results in reduced nuclear localization and increased ubiquitination and sumoylation in culture (PMID: 32150788).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN I135R

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Transcript NM_000314.8
gDNA chr10:g.87933163T>G
cDNA c.404T>G
Protein p.I135R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87933163T>G c.404T>G p.I135R RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933163T>G c.404T>G p.I135R RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References