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| Gene | PTEN |
| Variant | K125L |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN K125L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K125L confers a loss of function to the Pten protein as demonstrated by decreased phosphatase activity in yeast (PMID: 21828076) and loss of phosphatase activity in cell culture (PMID: 25873899). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN K125L |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933132_87933133delAAinsCT |
| cDNA | c.373_374delAAinsCT |
| Protein | p.K125L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |