KCNJ3 (P48549) variants and mutations

KCNJ3 (also known as P48549) is a human protein-coding gene encoding a g protein-activated inward rectifier potassium channel 1 protein. Together with GIRK-family partners, it carries inhibitory potassium current downstream of G-protein-coupled receptors and helps slow pacemaker activity and dampen neuronal excitability. Altered signaling can affect cardiac rhythm and neural circuits, although definitive monogenic disease associations are limited. This analysis covers 890 KCNJ3 variants and mutations. Of these, 64% have computational variant effect predictions. Disease context includes atrial fibrillation, intelligence, and smoking initiation. Example KCNJ3 variants include S2F, S2P, and S2S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable KCNJ3 variants

Examples include S2F, S2P, S2S, A3G, A3S, A3V, A3A, L4F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.