Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.P251L
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TNFRSF13B

NM_012452.3:p.P251L

Associated Papers

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

Abolhassani H et al.

Journal of Human Immunity, 2025

TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.

Chakrobortty T et al.

Frontiers in Medicine, 2025

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST4_GWAS_Loci_BBJ_NCGG_ToMMo

Deciphering the genetics and mechanisms of predisposition to multiple myeloma.

Went M et al.

Nature Communications, 2024

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

TNFRSF13B/TACI Mutations in Patients with Chronic Rhinosinusitis with Nasal Polyps.

Tsiouma GK et al.

American Journal of Rhinology & Allergy, 2023

Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus.

Ortiz-Aljaro P et al.

Scientific Reports, 2022

TNFRSF13B genotypes control immune-mediated pathology by regulating the functions of innate B cells.

de Mattos Barbosa MG et al.

Jci Insight, 2021

TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece.

Kakkas I et al.

Medicina (kaunas, Lithuania), 2021

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Khoruddin NA et al.

Scientific Reports, 2021

Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.

Torre-Fuentes L et al.

Cns Neuroscience & Therapeutics, 2020

32951330 (PubMed )
Supplement: CNS-26-1178-s002.xlsx › Hoja1

Association of Common Variants of TNFSF13 and TNFRSF13B Genes with CLL Risk and Clinical Picture, as Well as Expression of Their Products-APRIL and TACI Molecules.

Jasek M et al.

Cancers, 2020

33036273 (PubMed )
Supplement: cancers-12-02873-s001.pdf

Genetic predisposition for multiple myeloma.

Pertesi M et al.

Leukemia, 2020

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.

Went M et al.

Nature Communications, 2018

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

de Valles-Ibáñez G et al.

Frontiers in Immunology, 2018

[Identification of mutations associated with coronary artery lesion susceptibility in Kawasaki disease by targeted enrichment of genomic region sequencing technique].

Zhu DY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017

A Meta-analysis of Multiple Myeloma Risk Regions in African and European Ancestry Populations Identifies Putatively Functional Loci.

Rand KA et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

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

Pulvirenti F et al.

Journal of Immunology Research, 2016

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

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

Heterozygous alterations of TNFRSF13B/TACI in tonsillar hypertrophy and sarcoidosis.

Speletas M et al.

Clinical & Developmental Immunology, 2013

Three different classifications, B lymphocyte subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms in Turkish patients with common variable immunodeficiency.

Kutukculer N et al.

Journal of Clinical Immunology, 2012

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

Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency.

Almejún MB et al.

Journal of Clinical Immunology, 2012

A girl with autoimmune cytopenias, nonmalignant lymphadenopathy, and recurrent infections.

Mattheij MA et al.

Case Reports in Immunology, 2012

TNFRSF13B/TACI alterations in Greek patients with antibody deficiencies.

Speletas M et al.

Journal of Clinical Immunology, 2011

Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.

Chinen J 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

An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene.

Sazzini M et al.

Genes and Immunity, 2009

Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency.

López-Mejías R et al.

Tissue Antigens, 2009

[IgA subclass and IgA deficiency].

Kaneko H et al.

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese 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

Genetic factors for ischemic and hemorrhagic stroke in Japanese individuals.

Yamada Y et al.

Stroke, 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

Sequence analysis of TNFRSF13b, encoding TACI, in patients with systemic lupus erythematosus.

Salzer U et al.

Journal of Clinical Immunology, 2007

Search on chromosome 17 centromere reveals TNFRSF13B as a susceptibility gene for intracranial aneurysm: a preliminary study.

Inoue K et al.

Circulation, 2006

TACI is mutant in common variable immunodeficiency and IgA deficiency.

Castigli E et al.

Nature Genetics, 2005

Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.

Cho SM et al.

Human Immunology, 2004

TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency.

Karaca NE et al.

Avicenna Journal of Medical Biotechnology, 0

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