GLG1 (Golgi apparatus protein 1) variants and mutations

GLG1 (also known as Golgi apparatus protein 1) is a human protein-coding gene encoding a golgi apparatus protein 1 protein. A Golgi-associated glycoprotein that binds fibroblast growth factors and E-selectin, a molecule involved in leukocyte adhesion to blood vessels. This analysis covers 1,610 GLG1 variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes neurodegenerative disease, cervical carcinoma, and Varicose veins. Example GLG1 variants include A2G, A2P, 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, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable GLG1 variants

Examples include A2G, A2P, A2V, A3G, A3P, A3V, C4G, C4R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.