Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.L227*
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TNFAIP3

NM_001270508.2:p.L227*

Associated Papers

Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution.

He T et al.

The Journal of Allergy and Clinical Immunology, 2026

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

Case report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.

Shirai H et al.

Frontiers in Immunology, 2024

Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization.

Tian Y et al.

Frontiers in Immunology, 2022

Mutation analysis of the TNFAIP3 in A20 haploinsufficiency: A case report.

Yan M et al.

Medicine, 2021

Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment.

Yu MP et al.

World Journal of Pediatrics : Wjp, 2020

A20 at the Crossroads of Cell Death, Inflammation, and Autoimmunity.

Martens A et al.

Cold Spring Harbor Perspectives in Biology, 2020

Association of Clinical Phenotypes in Haploinsufficiency A20 (HA20) With Disrupted Domains of A20.

Chen Y et al.

Frontiers in Immunology, 2020

33101300 (PubMed )
Supplement: Data_Sheet_3.PDF

Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia.

Dong X et al.

Journal of Clinical Immunology, 2019

Infantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20).

Zheng C et al.

Inflammatory Bowel Diseases, 2018

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature.

Berteau F et al.

Autoimmunity Reviews, 2018

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

Franco-Jarava C et al.

Clinical Immunology (orlando, Fla.), 2018

An Update on Autoinflammatory Diseases: Relopathies.

Steiner A et al.

Current Rheumatology Reports, 2018

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.

Zhou Q et al.

Nature Genetics, 2016

Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet's disease.

Shigemura T et al.

Rmd Open, 2016

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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."