MCM5 (P33992) variants and mutations

MCM5 (also known as P33992) is a human protein-coding gene encoding a DNA replication licensing factor protein. It functions within the MCM2-7 helicase complex required for origin licensing and DNA unwinding during replication. Because its expression tracks proliferative activity, altered abundance is frequently observed in cancers and is used as a proliferation-related biomarker. This analysis covers 1,055 MCM5 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes Ear-patella-short stature syndrome, neurodegenerative disease, and lysosomal storage disease. Example MCM5 variants include S2L, S2*, and S2S.

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 MCM5 variants

Examples include S2L, S2*, S2S, G3V, G3G, F4S, F4L, D5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.