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| Gene | PTEN |
| Variant | G251C |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN G251C lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251C results in a loss of Pten phosphatase activity and is unable to suppress Akt activation and cell proliferation in culture (PMID: 11156408, PMID: 10866302). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G251C |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87957969G>T |
| cDNA | c.751G>T |
| Protein | p.G251C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |