PTEN Y138L
Gene Variant Detail

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Gene PTEN
Variant Y138L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN Y138L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y138L demonstrates Pten protein stability similar to wild-type protein in one study (PMID: 32366478) and reduced protein stability in another study (PMID: 32350270), and retains lipid phosphatase activity, however, demonstrates loss of protein phosphatase activity (PMID: 22413754), fails to rescue spheroid formation (PMID: 32366478), and fails to suppress Akt phosphorylation in cell culture, and delays development in flies (PMID: 32350270).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN Y138L

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Transcript NM_000314.8
gDNA chr10:g.87933171_87933172delTAinsCT
cDNA c.412_413delTAinsCT
Protein p.Y138L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87933171_87933172delTAinsCT c.412_413delTAinsCT p.Y138L RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933171_87933172delTAinsCT c.412_413delTAinsCT p.Y138L RefSeq GRCh38/hg38
NM_000314 chr10:g.87933171_87933172delTAinsCT c.412_413delTAinsCT p.Y138L 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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  • 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