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| Gene | PTEN |
| Variant | K125M |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN K125M lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K125M results in a loss of phosphatase activity in yeast (PMID: 21828076), 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 K125M |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933133_87933134delAAinsTG |
| cDNA | c.374_375delAAinsTG |
| Protein | p.K125M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |