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| Gene | PTEN |
| Variant | E242K |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN E242K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E242K has been identified in sequencing studies (PMID: 15069681, PMID: 31468114), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN E242K |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87957942G>A |
| cDNA | c.724G>A |
| Protein | p.E242K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87957942G>A | c.724G>A | p.E242K | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87957942G>A | c.724G>A | p.E242K | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87957942G>A | c.724G>A | p.E242K | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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