Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.R183*
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TNFAIP3

NM_001270508.2:p.R183*

Associated Papers

Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.

Anselmi F et al.

Rmd Open, 2026

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

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

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

Genomic landscape of Epstein-Barr virus-positive extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue.

Rea B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

Concurrent Waldenstrom's Macroglobulinemia and Myelodysplastic Syndrome with a Sequent t(10;13)(p13;q22) Translocation.

DeRosa PA et al.

Current Oncology (toronto, Ont.), 2022

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

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

Tian Y et al.

Frontiers in Immunology, 2022

Clinical characteristics and genetic analysis of A20 haploinsufficiency.

Zhang D et al.

Pediatric Rheumatology Online Journal, 2021

Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma.

Li P et al.

Frontiers in Oncology, 2021

33747936 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_2

A20 Haploinsufficiency in East Asia.

Kadowaki T et al.

Frontiers in Immunology, 2021

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

Coinheritance of generalized pustular psoriasis and familial Behçet-like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state.

Liang J et al.

The Journal of Dermatology, 2019

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .

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
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