FLG (Filaggrin) variants and mutations

FLG (also known as Filaggrin) is a human protein-coding gene encoding a filaggrin protein. It aggregates keratin fibers and is processed into natural moisturizing factors that are essential for epidermal barrier formation and hydration. Loss-of-function variants strongly predispose to ichthyosis vulgaris and atopic dermatitis by weakening the skin barrier. This analysis covers 9,805 FLG variants and mutations. Of these, 18% have computational variant effect predictions. Disease context includes atopic eczema, ichthyosis vulgaris, and Eczematoid dermatitis. Example FLG variants include S2P, T3A, and L4F.

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, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable FLG variants

Examples include S2P, T3A, L4F, L4V, L5P, E6K, N7S, N7T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.