PTEN

phosphatase and tensin homolog
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Known Variants (dbSNP)
Harmful Beneficial Normal
12 - 16
Novel Variants
Harmful Beneficial Normal
- - -
Variants by Type Count
Insertions & Deletions 3
Known Variants (dbSNP) 28
With Severity Score 4
Total 28

Known vs. Novel Variants
Known Variants
28
Novel
0

Functional Consequence of Variants
Known Variants
Novel Variants
Known Variants Novel Variants
Harmful, Score > 3
12
0
Beneficial
0
0
Normal, Score 0-2
16
0

Gene Details  

This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. [provided by RefSeq]

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Pharmaceuticals  
FDA approved drugs to treat condition Click on drug names to see more info
None
Drugs in clinical trials
PARP inhibitors Olaparib, Iniparib

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