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| Gene | PTEN |
| Variant | D24Y |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN D24Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24Y confers a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity and reduced nuclear localization in cell culture (PMID: 25875300, PMID: 17213812). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D24Y |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87864539G>T |
| cDNA | c.70G>T |
| Protein | p.D24Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87864539G>T | c.70G>T | p.D24Y | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87864539G>T | c.70G>T | p.D24Y | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87864539G>T | c.70G>T | p.D24Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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