PICALM (Q13492) variants and mutations

PICALM (also known as Q13492) is a human protein-coding gene encoding a phosphatidylinositol-binding clathrin assembly protein. It promotes clathrin-coated vesicle formation and membrane trafficking, including endocytosis and recycling of synaptic and hematopoietic proteins. Common variation near PICALM influences Alzheimer disease risk, while PICALM fusion genes can drive selected leukemias. This analysis covers 756 PICALM variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes Alzheimer disease, dementia, and acute myeloid leukemia. Example PICALM variants include S2Y, G3D, and T7A.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable PICALM variants

Examples include S2Y, G3D, T7A, T7M, T7R, T11A, A12V, S16R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.