ASIC1 (Acid-sensing ion channel 1) variants and mutations

ASIC1 (also known as Acid-sensing ion channel 1) is a human protein-coding gene encoding an acid-sensing ion channel 1 protein. The protein forms a pH-gated trimeric sodium channel that acts as an excitatory receptor in the nervous system. When extracellular conditions become more acidic, the channel produces a rapid inward current that can influence synaptic plasticity, learning, and memory. This analysis covers 864 ASIC1 variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes Seizure, neoplasm, and breast cancer. Example ASIC1 variants include M1V, M1R, and M1I.

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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, PharmGKB, MaveDB, LitVar.

Notable ASIC1 variants

Examples include M1V, M1R, M1I, E2K, E2*, E2D, L3P, K4N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.