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. Its annotated function is may be responsible for potassium buffering action of glial cells in the brain (By similarity). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. It is annotated at the membrane. 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.

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.