RAD21 (O60216) variants and mutations

RAD21 (also known as O60216) is a human protein-coding gene encoding a double-strand-break repair protein rad21 homolog protein. It forms part of the cohesin ring that holds replicated chromosomes together and also helps organize three-dimensional chromatin and gene regulation. Haploinsufficiency causes a Cornelia-de-Lange-like developmental syndrome, while somatic mutations occur in myeloid cancers. This analysis covers 975 RAD21 variants and mutations. Of these, 65% have computational variant effect predictions. Disease context includes Cornelia de Lange syndrome, Mungan syndrome, and hereditary disease. Example RAD21 variants include M1?, M1I, and Y3*.

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 RAD21 variants

Examples include M1?, M1I, Y3*, Y3C, A4T, A4S, A4V, H5Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.