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| Gene | PTEN |
| Variant | G127E |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN G127E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G127E retains Pten protein expression in a patient sample (PMID: 32610572), but demonstrates loss of phosphatase activity in a yeast assay (PMID: 21828076, PMID: 29706350). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G127E |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933139G>A |
| cDNA | c.380G>A |
| Protein | p.G127E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |