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| Gene | PTEN |
| Variant | G129* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN G129* results in a premature truncation of the Pten protein at amino acid 129 of 403 (UniProt.org). G129* 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 G129* |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933144G>T |
| cDNA | c.385G>T |
| Protein | p.G129* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |