MCM2 (P49736) variants and mutations

MCM2 (also known as P49736) is a human protein-coding gene encoding a DNA replication licensing factor protein. It is part of the MCM2-7 helicase that unwinds DNA at replication forks and licenses origins before S phase. Excess or dysregulated expression is common in proliferative cancers and is widely used as a marker of active DNA replication. This analysis covers 1,263 MCM2 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes autosomal dominant nonsyndromic hearing loss 70, autosomal dominant nonsyndromic hearing loss, and Abnormality of the gastrointestinal tract. Example MCM2 variants include M1I, A2E, and A2S.

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 MCM2 variants

Examples include M1I, A2E, A2S, A2T, A2V, A2P, A2A, E3K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.