Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.C172Y
Back to variants list

TNFRSF13B

NM_012452.3:p.C172Y

Associated Papers

Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.

Kose H et al.

Frontiers in Immunology, 2026

Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency.

Abolhassani H et al.

Journal of Human Immunity, 2025

Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience.

Aygun A et al.

Immunologic Research, 2024

Genetics and clinical phenotypes in common variable immunodeficiency.

Cunningham-Rundles C et al.

Frontiers in Genetics, 2023

38274105 (PubMed )
Supplement: DataSheet1.PDF

Ligand-independent oligomerization of TACI is controlled by the transmembrane domain and regulates proliferation of activated B cells.

Smulski CR et al.

Cell Reports, 2022

Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Guevara-Hoyer K et al.

Frontiers in Immunology, 2022

35990641 (PubMed )
Supplement: DataSheet_2.xlsx › Supp_Table_1

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Grossi A et al.

Genes, 2021

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Rojas-Restrepo J et al.

Frontiers in Immunology, 2021

Current genetic landscape in common variable immune deficiency.

Abolhassani H et al.

Blood, 2020

Clinical and molecular characterization of COVID-19 hospitalized patients.

Benetti E et al.

Plos One, 2020

33206719 (PubMed )
Supplement: pone.0242534.s004.xlsx › Foglio1

Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage.

Le Coz C et al.

The Journal of Allergy and Clinical Immunology, 2019

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

de Valles-Ibáñez G et al.

Frontiers in Immunology, 2018

29867916 (PubMed )
Supplement: data_sheet_1.PDF

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2

Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.

Pulvirenti F et al.

Journal of Immunology Research, 2016

Genetics of common variable immunodeficiency: role of transmembrane activator and calcium modulator and cyclophilin ligand interactor.

Sathkumara HD et al.

International Journal of Immunogenetics, 2015

Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations.

Freiberger T et al.

Human Immunology, 2012

Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency.

Fried AJ et al.

The Journal of Allergy and Clinical Immunology, 2011

Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency.

Mohammadi J et al.

Journal of Clinical Immunology, 2009

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.

Salzer U et al.

Blood, 2009

Common variable immunodeficiency: a new look at an old disease.

Park MA et al.

Lancet (london, England), 2008

Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes.

Zhang L et al.

The Journal of Allergy and Clinical Immunology, 2007

High serum levels of BAFF, APRIL, and TACI in common variable immunodeficiency.

Knight AK et al.

Clinical Immunology (orlando, Fla.), 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."