Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.Y79C
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TNFRSF13B

NM_012452.3:p.Y79C

Associated Papers

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

Abolhassani H et al.

Journal of Human Immunity, 2025

Novel heterozygous mutations of TNFRSF13B in EBV-associated T/NK lymphoproliferative diseases (EBV-T/NK-LPDs).

Deng X et al.

Blood Science (baltimore, Md.), 2024

38226020 (PubMed )
Supplement: bs9-6-e00180-s003.pdf

Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.

Waller RG et al.

Human Molecular Genetics, 2021

33751038 (PubMed )
Supplement: hmg-2020-am-00763_waller_stables_ddab066.xlsx › STable_II

Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.

Engelbrecht C et al.

Frontiers in Immunology, 2021

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

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-7.xlsx › S_Data_6

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

Rare mutations in TNFRSF13B increase the risk of asthma symptoms in Swedish children.

Janzi M et al.

Genes and Immunity, 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

The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice.

Bacchelli C 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

Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency.

Bacchelli C et al.

Clinical and Experimental Immunology, 2007

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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."