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Gene PTEN
Variant E307K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN E307K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E307K results in similar phosphatase activity as wild-type Pten, but leads to increased polyubiquitination and membrane localization, and decreased nuclear localization of Pten in cell culture (PMID: 22103913), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN E307K

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Transcript NM_000314.6
gDNA chr10:g.87961011G>A
cDNA c.919G>A
Protein p.E307K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87961011G>A c.919G>A p.E307K RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87961011G>A c.919G>A p.E307K 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")

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