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| Gene | PTEN |
| Variant | Y155C |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN Y155C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y155C confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302, PMID: 27829222), and reduced Pten protein stability and failure to rescue spheroid formation in cell culture (PMID: 32366478). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Y155C |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933223A>G |
| cDNA | c.464A>G |
| Protein | p.Y155C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |