ATXN2 (Ataxin-2) variants and mutations

ATXN2 (also known as Ataxin-2) is a human protein-coding gene encoding an ataxin-2 protein. It participates in RNA metabolism, stress-granule biology, and neuronal protein homeostasis. CAG-repeat expansion causes spinocerebellar ataxia type 2, while intermediate-length expansions also increase susceptibility to amyotrophic lateral sclerosis. This analysis covers 1,893 ATXN2 variants and mutations. Of these, 36% have computational variant effect predictions. Disease context includes spinocerebellar ataxia type 2, amyotrophic lateral sclerosis, and hypothyroidism. Example ATXN2 variants include R2C, R2H, and S3*.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ATXN2 variants

Examples include R2C, R2H, S3*, S3P, A4E, A5T, A6S, A7P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.