SRSF2 (Q01130) variants and mutations

SRSF2 (also known as Q01130) is a human protein-coding gene encoding a serine/arginine-rich splicing factor 2 protein. It helps select splice sites during pre-mRNA processing and coordinates multiple stages of RNA maturation. Recurrent P95 hotspot mutations change RNA-binding preferences and are common in myelodysplastic syndromes, chronic myelomonocytic leukemia, and AML. This analysis covers 691 SRSF2 variants and mutations. Of these, 60% have computational variant effect predictions. Disease context includes acute myeloid leukemia, myelodysplastic syndrome, and hemorrhagic disease. Example SRSF2 variants include M1?, S2R, and S2T.

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

Notable SRSF2 variants

Examples include M1?, S2R, S2T, S2S, S2N, S2I, S2G, Y3H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.