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| Gene | PTEN |
| Variant | E106* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN E106* results in a premature truncation of the Pten protein at amino acid 106 of 403 (UniProt.org). E106* has not been characterized, however, due to the effects of other truncation mutations downstream of E106 (PMID: 10468583), is predicted to lead to a loss of Pten protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN E106* |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933075G>T |
| cDNA | c.316G>T |
| Protein | p.E106* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001304717.5 | chr10:g.87864266G>T | c.316G>T | p.E106* | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87933075G>T | c.316G>T | p.E106* | RefSeq | GRCh38/hg38 |
| NM_001304717.2 | chr10:g.87864266G>T | c.316G>T | p.E106* | RefSeq | GRCh38/hg38 |
| NM_001304717 | chr10:g.87864266G>T | c.316G>T | p.E106* | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87933075G>T | c.316G>T | p.E106* | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87933075G>T | c.316G>T | p.E106* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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