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Gene PTEN
Variant Y336*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions PTEN Y336* results in a premature truncation within the C2 tensin-type domain of the Pten protein at amino acid 336 of 403 (UniProt.org). Y336* inhibits Akt phosphorylation and associates with heterochromatin to similar levels of wild-type Pten, but fails to stabilize Hp1alpha protein and enhances Hp1alpha polyubiquitination, leading to satellite DNA overexpression, failure to suppress cell growth, arrest cycle cycle progression, or inhibit transformation in cultured cells (PMID: 25946202).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN Y336*

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Transcript NM_000314.8
gDNA chr10:g.87961100C>A
cDNA c.1008C>A
Protein p.Y336*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87961100C>A c.1008C>A p.Y336* RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87961100C>A c.1008C>A p.Y336* RefSeq GRCh38/hg38
NM_000314 chr10:g.87961100C>A c.1008C>A p.Y336* 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTEN Y336* breast cancer sensitive Talazoparib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells expressing PTEN Y336* demonstrated increased sensitivity to Talzenna (talazoparib) compared to cells expressing wild-type Pten in culture (PMID: 25946202}. 25946202