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| Gene | PTEN |
| Variant | G251del |
| Impact List | deletion |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN G251del results in the deletion of an amino acid in the C2 tensin-type domain of the Pten protein at amino acid 251 (UniProt.org). G251del has been identified in the scientific literature (PMID: 35171658), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN G251del |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87957970_87957972delGTG |
| cDNA | c.752_754delGTG |
| Protein | p.G251delG |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.87957970_87957972delGTG | c.752_754delGTG | p.G251delG | RefSeq | GRCh38/hg38 |
| NM_001304717.5 | chr10:g.87931068_87931070delACC | c.751_753delACC | p.T251delT | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87957970_87957972delGTG | c.752_754delGTG | p.G251del | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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