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Gene | PTEN |
Variant | I33del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN I33del results in the deletion of an amino acid in the phosphatase tensin-type domain of the Pten protein at amino acid 33 (UniProt.org). I33del 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 I33del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894042_87894044delATT |
cDNA | c.97_99delATT |
Protein | p.I33delI |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87894042_87894044delATT | c.97_99delATT | p.I33del | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87957906_87957908delGGA | c.97_99delGGA | p.G33delG | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894042_87894044delATT | c.97_99delATT | p.I33delI | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864046_87864048delAAC | c.97_99delAAC | p.N33delN | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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