HNRNPA1 (P09651) variants and mutations

HNRNPA1 (also known as P09651) is a human protein-coding gene encoding a heterogeneous nuclear ribonucleoprotein A1 protein. It regulates pre-mRNA splicing, RNA transport, translation, and stress-granule dynamics through RNA binding and reversible self-assembly. Rare pathogenic variants can cause multisystem proteinopathy, amyotrophic lateral sclerosis, or related neuromuscular degeneration through altered RNA and protein homeostasis. This analysis covers 469 HNRNPA1 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes amyotrophic lateral sclerosis, inclusion body myopathy with Paget disease of bone and frontotemporal dementia, and chronic progressive multiple sclerosis. Example HNRNPA1 variants include S2T, S4L, and S4S.

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, MaveDB, LitVar.

Notable HNRNPA1 variants

Examples include S2T, S4L, S4S, S4A, S4T, S4*, E5Q, E5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.