PTEN H123Y
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_000314.8
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_000314.8 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
NM_000314 chr10:g.87933126C>T c.367C>T p.H123Y RefSeq GRCh38/hg38

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  • 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