ZRSR2 (Q15696) variants and mutations

ZRSR2 (also known as Q15696) is a human protein-coding gene encoding an u2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2 protein. It is particularly important for recognition and removal of U12-type minor introns during RNA splicing. Somatic loss-of-function mutations are recurrent in myelodysplastic syndromes and other myeloid neoplasms and produce characteristic minor-intron retention. This analysis covers 567 ZRSR2 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes neurodegenerative disease, orofaciodigital syndrome 21, and myelodysplastic syndrome. Example ZRSR2 variants include A2D, A2G, and A2T.

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

Notable ZRSR2 variants

Examples include A2D, A2G, A2T, A2S, A2V, A3E, A3S, A3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.