TNFSF13
Chr 17TNF superfamily member 13
Also known as: APRIL, CD256, TALL-2, TALL2, TNLG7B, TRDL-1, UNQ383/PRO715, ZTNF2
The encoded protein is a TNF ligand family cytokine that binds to TNFRSF13B/TACI and TNFRSF17/BCMA receptors and regulates B cell development and tumor cell growth. Mutations cause autosomal recessive immunodeficiency affecting B cell function and antibody production. The gene is highly constrained against loss-of-function variants (LOEUF 0.44), indicating that complete protein loss is likely not tolerated.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
51 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 20 | 0 | 20 |
Likely Pathogenic | 1 | 0 | 1 | 0 | 2 |
VUS | 0 | 10 | 10 | 1 | 21 |
Likely Benign | 0 | 1 | 1 | 1 | 3 |
Benign | 0 | 1 | 3 | 1 | 5 |
| Total | 1 | 12 | 35 | 3 | 51 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TNFSF13 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools