DCC (Netrin receptor DCC) variants and mutations

DCC (also known as Netrin receptor DCC) is a human protein-coding gene encoding a netrin receptor protein. It guides developing axons in response to netrin signals and helps establish long-range neural connections across the midline. Heterozygous pathogenic variants can cause congenital mirror movements, while biallelic or severe variants can produce complex neurodevelopmental syndromes. This analysis covers 2,230 DCC variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes mirror movements 1, horizontal gaze palsy with progressive scoliosis, and mirror movements 1 and/or agenesis of the corpus callosum. Example DCC variants include M1T, 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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable DCC variants

Examples include M1T, E2A, E2D, E2K, E2Q, N3K, N3S, N3H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.