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Gene | PTEN |
Variant | I101T |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN I101T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I101T confers a loss of function to the Pten protein as demonstrated by decreased lipid phosphatase activity (PMID: 32350270, PMID: 29608813), reduced protein stability (PMID: 32366478, PMID: 32350270, PMID: 29608813), enhanced polyubiquitination, decreased Pten phosphorylation at Threonine (T)-366, and reduced nuclear localization (PMID: 29608813), and fails to rescue spheroid formation in cell culture (PMID: 32366478). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN I101T |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933061T>C |
cDNA | c.302T>C |
Protein | p.I101T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933061T>C | c.302T>C | p.I101T | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933061T>C | c.302T>C | p.I101T | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933061T>C | c.302T>C | p.I101T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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