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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 |
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_000314.6 | 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 |
NM_000314.8 | chr10:g.87933126C>T | c.367C>T | p.H123Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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