IL1RAPL1 (Q9NZN1) variants and mutations

IL1RAPL1 (also known as Q9NZN1) is a human protein-coding gene encoding an interleukin-1 receptor accessory protein-like 1 protein. A neuronal cell-surface protein involved in synapse organization and signaling. Disrupting its function is associated with neurodevelopmental conditions, including X-linked intellectual disability. This analysis covers 655 IL1RAPL1 variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes intellectual disability, X-linked 21, X-linked non-syndromic intellectual disability, and non-syndromic X-linked intellectual disability. Example IL1RAPL1 variants include A3T, A3V, and A3D.

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, ClinGen, MaveDB, LitVar.

Notable IL1RAPL1 variants

Examples include A3T, A3V, A3D, P4A, P4L, P4S, P4P, P6P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.