PIK3R1

phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
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Known Variants (dbSNP)
Harmful Beneficial Normal
- - 15
Novel Variants
Harmful Beneficial Normal
- - -
Variants by Type Count
Insertions & Deletions 1
Known Variants (dbSNP) 15
With Severity Score 1
Total 15

Known vs. Novel Variants
Known Variants
15
Novel
0

Functional Consequence of Variants
Known Variants
Novel Variants
Known Variants Novel Variants
Harmful, Score > 3
0
0
Beneficial
0
0
Normal, Score 0-2
15
0

Gene Details  

Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [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
None

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