CRMP1 (Q14194) variants and mutations

CRMP1 (also known as Q14194) is a human protein-coding gene encoding a dihydropyrimidinase-related protein 1 protein. It helps translate semaphorin guidance signals into changes in the neuronal cytoskeleton, directing axon growth and growth-cone responses. Its effects on actin organization and cell migration contribute to the formation and remodeling of neuronal connections. This analysis covers 398 CRMP1 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes neurodegenerative disease, alcohol drinking, and stroke disorder. Example CRMP1 variants include D15N, R16*, and R16P.

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 CRMP1 variants

Examples include D15N, R16*, R16P, G21T, R23W, I24T, I25V, D27N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.