MCM6 (Q14566) variants and mutations

MCM6 (also known as Q14566) is a human protein-coding gene encoding a DNA replication licensing factor protein. Within the MCM2-7 helicase, it helps license and unwind DNA for genome duplication. Regulatory variation within the MCM6 locus also controls adult intestinal LCT expression and underlies common lactase-persistence traits. This analysis covers 1,084 MCM6 variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes lactose intolerance, neurodegenerative disease, and muscle strain. Example MCM6 variants include L3F, L3V, and A4E.

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 MCM6 variants

Examples include L3F, L3V, A4E, A4G, A4S, A4V, A5E, A5T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.