GFAP (Glial fibrillary acidic protein) variants and mutations

GFAP (also known as Glial fibrillary acidic protein) is a human protein-coding gene encoding a glial fibrillary acidic protein. It forms intermediate filaments that support astrocyte structure and help organize responses to injury within the central nervous system. Dominant pathogenic variants cause Alexander disease through toxic accumulation and aggregation of abnormal GFAP in astrocytes. This analysis covers 795 GFAP variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes Alexander disease, hereditary disease, and Alexander disease type I. Example GFAP variants include E2K, E2Q, and R3K.

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 GFAP variants

Examples include E2K, E2Q, R3K, R3S, R3T, R4G, R4K, R5C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.