Gene Variant Detail

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Gene PTEN
Variant H123Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN H123Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). The functional effect of H123Y is conflicting as it results in increased Akt activation and cell survival in culture in one study (PMID: 11448956), but suppresses Akt signaling similar to wild-type Pten in another study (PMID: 32704382), and demonstrates Pten protein stability similar to wild-type protein, however, fails to rescue spheroid formation (PMID: 32366478), and results in a loss of phosphatase activity (PMID: 9256433, PMID: 11448956, PMID: 29706350), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN H123Y

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Transcript NM_000314.6
gDNA chr10:g.87933126C>T
cDNA c.367C>T
Protein p.H123Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933126C>T c.367C>T p.H123Y RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933126C>T c.367C>T p.H123Y RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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