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Gene | PTEN |
Variant | T382A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN T382A does not lie within any known functional domains of the Pten protein (UniProt.org). T382A results in nuclear and membrane localization similar to wild-type Pten (PMID: 25823029, PMID: 17565999), but results in increased ubiquitination (PMID: 11431330), increased cell cycle arrest and transcriptional activation of FKHR, and retains the ability to undergo phosphorylation by Topk in an in vitro assay (PMID: 24012691) and the ability to respond to PIP2, but demonstrates reduced lipid phosphatase activity (PMID: 17565999), decreased Pten protein stability (PMID: 10866658, PMID: 11035045), and impaired nuclear localization in cell culture (PMID: 16807353), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN T382A |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965404A>G |
cDNA | c.1144A>G |
Protein | p.T382A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87965404A>G | c.1144A>G | p.T382A | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965404A>G | c.1144A>G | p.T382A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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