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| Gene | PTEN |
| Variant | M134del |
| Impact List | deletion |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN M134del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 134 (UniProt.org). M134del results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN M134del |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933161_87933163delGAT |
| cDNA | c.402_404delGAT |
| Protein | p.M134delM |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001304718.2 | chr10:g.87961083_87961085delGAC | c.400_402delGAC | p.D134delD | RefSeq | GRCh38/hg38 |
| NM_001304717.5 | chr10:g.87864350_87864352delGAG | c.400_402delGAG | p.E134delE | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87933161_87933163delGAT | c.402_404delGAT | p.M134delM | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87933161_87933163delGAT | c.402_404delGAT | p.M134del | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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