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Gene | PTEN |
Variant | G132del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN G132del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 132 (UniProt.org). G132del 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 G132del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933154_87933156delGTG |
cDNA | c.395_397delGTG |
Protein | p.G132delG |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304718.2 | chr10:g.87961079_87961081delTAA | c.396_398delTAA | p.N132delN | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933154_87933156delGTG | c.395_397delGTG | p.G132del | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864346_87864348delGGC | c.396_398delGGC | p.A133delA | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933154_87933156delGTG | c.395_397delGTG | p.G132delG | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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