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Gene | PTEN |
Variant | P96del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN P96del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 96 (UniProt.org). P96del 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 P96del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933046_87933048delCAC |
cDNA | c.287_289delCAC |
Protein | p.P96delP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933046_87933048delCAC | c.287_289delCAC | p.P96del | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933046_87933048delCAC | c.287_289delCAC | p.P96delP | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87960969_87960971delGGA | c.286_288delGGA | p.G96delG | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864241_87864243delCGC | c.291_293delCGC | p.A99delA | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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