U2AF1 (Q01081) variants and mutations

U2AF1 (also known as Q01081) is a human protein-coding gene encoding a splicing factor U2AF 35 kDa subunit protein. It recognizes the AG dinucleotide at 3-prime splice sites during early spliceosome assembly. Recurrent S34 and Q157 hotspot mutations alter splice-site selection and are important drivers of myelodysplastic syndromes, AML, and some solid tumors. This analysis covers 642 U2AF1 variants and mutations. Of these, 66% have computational variant effect predictions. Disease context includes acute myeloid leukemia, lung adenocarcinoma, and neurodegenerative disease. Example U2AF1 variants include A2G, A2V, and A2A.

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 U2AF1 variants

Examples include A2G, A2V, A2A, A2E, A2S, A2T, E3G, E3D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.