ASXL1 (Polycomb group protein ASXL1) variants and mutations

ASXL1 (also known as Polycomb group protein ASXL1) is a human protein-coding gene encoding a polycomb group protein. It regulates developmental and hematopoietic transcription through interactions with Polycomb and other chromatin-modifying systems. Somatic truncating variants are common in clonal hematopoiesis and myeloid malignancies, while germline pathogenic variants cause Bohring-Opitz syndrome. This analysis covers 4,107 ASXL1 variants and mutations. Of these, 51% have computational variant effect predictions. Disease context includes Bohring-Opitz syndrome, myelodysplastic syndrome, and acute myeloid leukemia. Example ASXL1 variants include M1L, M1I, and K2*.

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, ClinGen, MaveDB, LitVar.

Notable ASXL1 variants

Examples include M1L, M1I, K2*, K2M, K2R, K2Q, K2E, K2K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.