RELN (Reelin) variants and mutations

RELN (also known as Reelin) is a human protein-coding gene encoding a reelin protein. It is secreted during brain development to guide neuronal migration and cortical layering and later modulates synaptic plasticity. Biallelic loss-of-function variants cause lissencephaly with cerebellar hypoplasia, while heterozygous variants can be associated with epilepsy. This analysis covers 4,727 RELN variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes Norman-Roberts syndrome, familial temporal lobe epilepsy 7, and Lissencephaly syndrome, Norman-Roberts type. Example RELN variants include M1V, E2A, and E2D.

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 RELN variants

Examples include M1V, E2A, E2D, E2G, E2Q, R3L, S4N, S4R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.