PTEN H93Y
Gene Variant Detail

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Gene PTEN
Variant H93Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN H93Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H93Y demonstrates loss of phosphatase activity (PMID: 10866302, PMID: 21828076), and increased Pten protein stability, but fails to suppress Akt phosphorylation in cell culture, and leads to impaired developmental growth in flies (PMID: 32350270).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN H93Y

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Transcript NM_000314.8
gDNA chr10:g.87933036C>T
cDNA c.277C>T
Protein p.H93Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304717.2 chr10:g.87864227C>T c.277C>T p.H93Y RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864227C>T c.277C>T p.H93Y RefSeq GRCh38/hg38
NM_000314 chr10:g.87933036C>T c.277C>T p.H93Y RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933036C>T c.277C>T p.H93Y RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933036C>T c.277C>T p.H93Y RefSeq GRCh38/hg38
NM_001304717 chr10:g.87864227C>T c.277C>T p.H93Y 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")

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.
  • 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