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Gene | PTEN |
Variant | T401I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN T401I lies within the PDZ domain-binding region of the Pten protein (UniProt.org). T401I demonstrates phosphatase activity (PMID: 10866302, PMID: 30993208) and subcellular localization (PMID: 30993208) similar to wild-type Pten in culture, but has impaired regulation of Glut1 plasma membrane expression and glucose uptake (PMID: 29117568), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN T401I |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965462C>T |
cDNA | c.1202C>T |
Protein | p.T401I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87965462C>T | c.1202C>T | p.T401I | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965462C>T | c.1202C>T | p.T401I | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965462C>T | c.1202C>T | p.T401I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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