TNFRSF13C (Q96RJ3) variants and mutations

TNFRSF13C (also known as Q96RJ3) is a human protein-coding gene encoding a tumor necrosis factor receptor superfamily member 13C protein. It provides a crucial survival signal for transitional and mature B cells in response to BAFF. Biallelic loss-of-function variants can cause antibody deficiency with markedly reduced mature B-cell numbers. This analysis covers 533 TNFRSF13C variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes immunodeficiency, common variable, 4, common variable immunodeficiency, and recurrent infections associated with rare immunoglobulin isotypes deficiency. Example TNFRSF13C variants include M1K, R2K, and R3L.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable TNFRSF13C variants

Examples include M1K, R2K, R3L, R3Q, G4A, G4E, P5H, P5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.