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Gene | PTEN |
Variant | T401* |
Impact List | nonsense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PTEN T401* results in a premature truncation of the Pten protein at amino acid 401 of 403 (UniProt.org). T401* demonstrates protein stability and the ability to inhibit Akt phosphorylation and cell transformation to similar levels as wild-type Pten in culture (PMID: 10468583), and therefore, is predicted to have no effect on Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN T401* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965461_87965462delACinsTA |
cDNA | c.1201_1202delACinsTA |
Protein | p.T401* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87965461_87965462delACinsTA | c.1201_1202delACinsTA | p.T401* | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965461_87965462delACinsTA | c.1201_1202delACinsTA | p.T401* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965461_87965462delACinsTA | c.1201_1202delACinsTA | p.T401* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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