rs104894649
This is a variant in the TNFRSF13B gene that changes a arginine to an histidine.
▶ClinVar annotation
Common Variable Immune Deficiency, Dominant; Immunodeficiency, common variable, 2; not specified
View on ClinVar →About TNFRSF13B
The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
View all TNFRSF13B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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