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| Gene | PTEN |
| Variant | Y178* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN Y178* results in a premature truncation of the Pten protein at amino acid 178 of 403 (UniProt.org). Y178* 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 Y178* |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87952159T>A |
| cDNA | c.534T>A |
| Protein | p.Y178* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.87952159T>A | c.534T>A | p.Y178* | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87952159T>A | c.534T>A | p.Y178* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PTEN Y178* | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |