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| Gene | PTEN |
| Variant | L23F |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN L23F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L23F retains phosphatase activity, but results in nuclear accumulation of Pten and failure to inhibit Akt phosphorylation and cell proliferation in culture (PMID: 17213812) and therefore, confers a loss of function to the Pten protein. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN L23F |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87864538A>T |
| cDNA | c.69A>T |
| Protein | p.L23F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87864538A>T | c.69A>T | p.L23F | RefSeq | GRCh38/hg38 |
| NM_001304718.2 | chr10:g.87957876_87957878delCTAinsTTT | c.67_69delCTAinsTTT | p.L23F | RefSeq | GRCh38/hg38 |
| NM_001304718.1 | chr10:g.87957876_87957878delCTAinsTTT | c.67_69delCTAinsTTT | p.L23F | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87864538A>T | c.69A>T | p.L23F | RefSeq | GRCh38/hg38 |
| NM_001304718 | chr10:g.87957876_87957878delCTAinsTTT | c.67_69delCTAinsTTT | p.L23F | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87864538A>T | c.69A>T | p.L23F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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