PIK3AP1 Chromosome 10
Phosphoinositide-3-kinase adaptor protein 1
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What This Gene Does
Predicted to enable phosphatidylinositol 3-kinase regulatory subunit binding activity and signaling receptor binding activity. Predicted to be involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; regulation of inflammatory response; and regulation of innate immune response. Predicted to be located in membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (1)
Infantile spasms
Key Variants
RS1323743578
Conflicting classifications of pathogenicity
Infantile spasms, Infantile spasms
Health Risk
RS138047705
Conflicting classifications of pathogenicity
Infantile spasms, Infantile spasms
Health Risk
RS149381805
Conflicting classifications of pathogenicity
Infantile spasms, Infantile spasms
Health Risk
RS201358424
Conflicting classifications of pathogenicity
Infantile spasms, Infantile spasms
Health Risk
RS367613610
Conflicting classifications of pathogenicity
Infantile spasms, Infantile spasms
Health Risk
RS369732062
Conflicting classifications of pathogenicity
Infantile spasms, Infantile spasms
Health Risk
RS45587542
Conflicting classifications of pathogenicity
Infantile spasms, Infantile spasms
Health Risk
RS781326320
Conflicting classifications of pathogenicity
Infantile spasms, Infantile spasms
Health Risk
RS896155784
Conflicting classifications of pathogenicity
Infantile spasms, Infantile spasms
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1323743578 | Health Risk | Conflicting classifications of pathogenicity | Infantile spasms, Infantile spasms |
| RS138047705 | Health Risk | Conflicting classifications of pathogenicity | Infantile spasms, Infantile spasms |
| RS149381805 | Health Risk | Conflicting classifications of pathogenicity | Infantile spasms, Infantile spasms |
| RS201358424 | Health Risk | Conflicting classifications of pathogenicity | Infantile spasms, Infantile spasms |
| RS367613610 | Health Risk | Conflicting classifications of pathogenicity | Infantile spasms, Infantile spasms |
| RS369732062 | Health Risk | Conflicting classifications of pathogenicity | Infantile spasms, Infantile spasms |
| RS45587542 | Health Risk | Conflicting classifications of pathogenicity | Infantile spasms, Infantile spasms |
| RS781326320 | Health Risk | Conflicting classifications of pathogenicity | Infantile spasms, Infantile spasms |
| RS896155784 | Health Risk | Conflicting classifications of pathogenicity | Infantile spasms, Infantile spasms |