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| Gene | PTEN |
| Variant | I101F |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN I101F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I101F demonstrates protein stability similar to wild-type Pten, however, results in reduced ability to rescue spheroid formation in cell culture (PMID: 32366478) and reduced phosphatase activity in a yeast assay (PMID: 29706350). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN I101F |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933060A>T |
| cDNA | c.301A>T |
| Protein | p.I101F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |