Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.N102S
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TNFAIP3

NM_001270508.2:p.N102S

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Identification of potentially deleterious mutations in gastric cancer using patient-derived xenograft models.

Kong L et al.

Frontiers in Genetics, 2025

41696640 (PubMed )
Supplement: Supplementaryfile1.zip › 20260103_SupMaterial › Supplementary_Table_S4.XLSX › Sheet1

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

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.

Schroeder P et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808701 (PubMed )
Supplement: media-2.xlsx › T6

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.

El Khouri E et al.

Elife, 2023

Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.

Zhao M et al.

Frontiers in Genetics, 2023

37152994 (PubMed )
Supplement: Table3.XLSX › Raw_data

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

Tian Y et al.

Frontiers in Immunology, 2022

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

Chen C et al.

Cancer Cell International, 2021

HOXBLINC long non-coding RNA activation promotes leukemogenesis in NPM1-mutant acute myeloid leukemia.

Zhu G et al.

Nature Communications, 2021

33782403 (PubMed )
Supplement: 41467_2021_22095_MOESM1_ESM.pdf

Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion.

Taniguchi K et al.

Human Genome Variation, 2021

A20 Haploinsufficiency in East Asia.

Kadowaki T et al.

Frontiers in Immunology, 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

Use of Gefitinib in EGFR-Amplified Refractory Solid Tumors: An Open-Label, Single-Arm, Single-Center Prospective Pilot Study.

Byeon S et al.

Targeted Oncology, 2020

A20 Haploinsufficiency in a Chinese Patient With Intestinal Behcet's Disease-Like Symptoms: A Case Report.

Chen Y 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

Role of deleterious single nucleotide variants in the coding regions of TNFAIP3 for Japanese autoimmune hepatitis with cirrhosis.

Higuchi T et al.

Scientific Reports, 2019

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

Identification of functional missense single-nucleotide polymorphisms in TNFAIP3 in a predominantly Hispanic population.

Zhang B et al.

Journal of Clinical and Translational Science, 2018

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Dand N et al.

Human Molecular Genetics, 2017

28973304 (PubMed )
Supplement: dand_exomewideassociationstudy_hmg_2017_supplementaryexcel_ddx328.xlsx › Supp_Table_10

Development of a high-resolution melting method for the screening of TNFAIP3 gene mutations.

Chang YC et al.

Oncology Reports, 2016

Targeted genomic sequencing of follicular dendritic cell sarcoma reveals recurrent alterations in NF-κB regulatory genes.

Griffin GK et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2016

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › all_info

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3

Genetic variation and alterations of genes involved in NFκB/TNFAIP3- and NLRP3-inflammasome signaling affect susceptibility and outcome of colorectal cancer.

Ungerbäck J et al.

Carcinogenesis, 2012

Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases.

Musone SL et al.

Genes and Immunity, 2011

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

Haploinsufficiency of A20 caused by a novel pathogenic missense variant of TNFAIP3 and successfully treated with anti-TNF and immunosuppressive therapies.

Lina S et al.

Cellular Immunology, 0

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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."