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Gene PTEN
Variant C136Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN C136Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C136Y confers a loss of Pten protein function as demonstrated by loss of phosphatase activity in an in vitro assay and a yeast assay (PMID: 10866302, PMID: 29706350), and failure to suppress phosphorylation of Pdk1, Akt, and Gsk3beta in cultured cells (PMID: 32704382).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN C136Y

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Transcript NM_000314.6
gDNA chr10:g.87933166G>A
cDNA c.407G>A
Protein p.C136Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933166G>A c.407G>A p.C136Y RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933166G>A c.407G>A p.C136Y 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
PTEN C136Y breast cancer resistant Alpelisib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells harboring PTEN C136Y demonstrated resistance to Alpelisib (BYL719) in culture (PMID: 27604488). 27604488