Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.R271*
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TNFAIP3

NM_001270508.2:p.R271*

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

Case Report: Exploring the spectrum of A20 haploinsufficiency in children.

Jayaraman S et al.

Frontiers in Pediatrics, 2025

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

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.

Johnson WT et al.

Blood Advances, 2023

37078708 (PubMed )
Supplement: BLOODA_ADV-2023-009953-mmc1.xlsx › S1D_AITL_mutations

Unraveling the genetics of transformed splenic marginal zone lymphoma.

Grau M et al.

Blood Advances, 2023

36995085 (PubMed )
Supplement: BLOODA_ADV-2022-009415-mmc1.xlsx › ST7

Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.

Shen R et al.

Signal Transduction and Targeted Therapy, 2023

37032379 (PubMed )
Supplement: 41392_2023_1358_MOESM4_ESM.xlsx › __

Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.

Zhou D et al.

Frontiers in Oncology, 2023

37546421 (PubMed )
Supplement: DataSheet_1.xlsx › Sheet1

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

Tian Y et al.

Frontiers in Immunology, 2022

Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Guan T et al.

Frontiers in Oncology, 2022

36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_3

Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature.

Liu J et al.

Frontiers in Pediatrics, 2022

TNFAIP3 mutation may be associated with favorable overall survival for patients with T-cell lymphoma.

Chen C et al.

Cancer Cell International, 2021

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

Yan M et al.

Medicine, 2021

Targeted-Gene Sequencing and Bioinformatics Analysis of Patients with Pancreatic Mucoepidermoid Carcinoma: A Case Report and Literature Review.

Chen Z et al.

Oncotargets and Therapy, 2021

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

Yu MP et al.

World Journal of Pediatrics : Wjp, 2020

Distinct Molecular Landscape of Epstein-Barr Virus Associated Pulmonary Lymphoepithelioma-Like Carcinoma Revealed by Genomic Sequencing.

Chau SL et al.

Cancers, 2020

32726920 (PubMed )
Supplement: cancers-12-02065-s001.zip › cancers-870865-supplementary_V2 › Supplementary_Tables_S1-S10.xlsx › Table_S7

Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Shi Y et al.

Ebiomedicine, 2020

32304999 (PubMed )
Supplement: mmc1.xlsx › 4.mutations

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

Martens A et al.

Cold Spring Harbor Perspectives in Biology, 2020

Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Wang W et al.

Frontiers in Immunology, 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

Monogenic mimics of Behçet's disease in the young.

Papadopoulou C et al.

Rheumatology (oxford, England), 2019

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

Recurrent mutations in NF-κB pathway components, KMT2D, and NOTCH1/2 in ocular adnexal MALT-type marginal zone lymphomas.

Johansson P et al.

Oncotarget, 2016

27566587 (PubMed )
Supplement: oncotarget-07-62627-s001.pdf

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

Zhou Q et al.

Nature Genetics, 2016

The role of A20 in the pathogenesis of lymphocytic malignancy.

Zhang F et al.

Cancer Cell International, 2012

A20, ABIN-1/2, and CARD11 mutations and their prognostic value in gastrointestinal diffuse large B-cell lymphoma.

Dong G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

21266526 (PubMed )
Supplement: 10780432ccr101859-sup-supplementary_data.pdf
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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."