KCNJ10 (P78508) variants and mutations

KCNJ10 (also known as P78508) is a human protein-coding gene encoding an ATP-sensitive inward rectifier potassium channel 10 protein. The Kir4.1 inward-rectifier potassium channel, which helps buffer potassium in the brain and kidney. Variants can cause EAST/SeSAME syndrome, involving seizures, ataxia, hearing loss, and renal salt loss. This analysis covers 870 KCNJ10 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes EAST syndrome, autosomal recessive nonsyndromic hearing loss 4, and Pendred syndrome. Example KCNJ10 variants include M1V, T2M, and T2P.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Diseases linked to KCNJ10

Notable KCNJ10 variants

Examples include M1V, T2M, T2P, T2R, S3*, S3P, V4A, V4I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.