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| Gene | PTEN |
| Variant | E285* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN E285* results in a premature truncation of the Pten protein at amino acid 285 of 403 (UniProt.org). E285* results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN E285* |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87960945G>T |
| cDNA | c.853G>T |
| Protein | p.E285* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314 | chr10:g.87960945G>T | c.853G>T | p.E285* | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87960945G>T | c.853G>T | p.E285* | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87960945G>T | c.853G>T | p.E285* | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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