MCM3 (P25205) variants and mutations

MCM3 (also known as P25205) is a human protein-coding gene encoding a DNA replication licensing factor protein. It contributes to the MCM2-7 replicative helicase that licenses replication origins and separates DNA strands during S phase. Disruption of helicase control can promote replication stress and genome instability, while high expression commonly marks proliferating tumor cells. This analysis covers 1,199 MCM3 variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes neurodegenerative disease, Meier-Gorlin syndrome, and hepatocellular carcinoma. Example MCM3 variants include M1?, A2E, and A2V.

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 MCM3 variants

Examples include M1?, A2E, A2V, G3D, G3S, V5A, V5E, V5M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.