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| Gene | PTEN |
| Variant | S227F |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN S227F lies within the C2 tensin-type domain of the Pten protein (UniProt.org). S227F results in loss of phosphatase activity in an in vitro assay in one study (PMID: 10866302), but phosphatase activity similar to wild-type in another study (PMID: 11156408) and inhibition of anchorage-independent growth similar to wild-type (PMID: 11156408), and therefore, its effect on Pten protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN S227F |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87957898C>T |
| cDNA | c.680C>T |
| Protein | p.S227F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.87957898C>T | c.680C>T | p.S227F | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87957898C>T | c.680C>T | p.S227F | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87957898C>T | c.680C>T | p.S227F | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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