PIK3R6
Chr 17phosphoinositide-3-kinase regulatory subunit 6
Also known as: C17orf38, HsT41028, p84 PIKAP, p87(PIKAP), p87PIKAP
The PIK3R6 protein is a regulatory subunit of PI3K gamma, a lipid kinase that produces phosphatidylinositol 3,4,5-trisphosphate and mediates signaling downstream of G protein-coupled receptors. Mutations in PIK3R6 cause autosomal recessive immunodeficiency with recurrent infections, growth retardation, and neurodevelopmental delays. The gene shows very low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
143 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 106 | 3 | 0 | 109 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 108 | 13 | 0 | 121 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PIK3R6 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools