Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.F127C
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TNFAIP3

NM_001270508.2:p.F127C

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

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

Pharmacogenomic landscape of TNF inhibitors in the Middle Eastern Qatari population.

Jan Z et al.

Frontiers in Immunology, 2025

41346622 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_6

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

The Complexity of Being A20: From Biological Functions to Genetic Associations.

Karri U et al.

Journal of Clinical Immunology, 2024

Interactions between TNFAIP3, PTPN22, and TRAF1-C5 gene polymorphisms in patients with primary Sjögren's syndrome.

Cadena-Sandoval D et al.

Archives of Rheumatology, 2024

The functional TNFAIP3 rs2230926T/G (Phe127Cys) variant confers risk to systemic lupus erythematosus in a Latin American population.

Montúfar-Robles I et al.

Human Immunology, 2024

A20 Promoter rs5029924 Concomitant with rs2230926 and rs5029937 May Be a Prognostic Predictor for Joint Deformity or Refractory Rheumatoid Arthritis.

Zhu L et al.

International Journal of General Medicine, 2024

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

Shirai H et al.

Frontiers in Immunology, 2024

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

El Khouri E et al.

Elife, 2023

The impact of the cytoplasmic ubiquitin ligase TNFAIP3 gene variation on transcription factor NF-κB activation in acute kidney injury.

Rogers NM et al.

Kidney International, 2023

Molecular Dynamic Simulations Unravel the Underlying Impact of Missense Mutation in Autoimmunity Gene PTPN22 on Predisposition to Rheumatoid Arthritis.

Pasha U et al.

Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 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

No association of eight TNFAIP3 single nucleotide variants to rheumatoid arthritis in Mexicans.

Aranda-Uribe IS et al.

Molecular Biology Reports, 2022

Clinicopathologic Characteristics and A20 Mutation in Primary Thyroid Lymphoma.

Kuribayashi-Hamada Y et al.

Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2022

TNFAIP3 Reduction-of-Function Drives Female Infertility and CNS Inflammation.

Zammit NW et al.

Frontiers in Immunology, 2022

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

Functional analysis of novel A20 variants in patients with atypical inflammatory diseases.

Kadowaki S et al.

Arthritis Research & Therapy, 2021

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Sharma P et al.

Frontiers in Genetics, 2021

34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1

A20 Haploinsufficiency in East Asia.

Kadowaki T et al.

Frontiers in Immunology, 2021

The haplotypes of various TNF related genes associated with scleritis in Chinese Han.

Gao Y et al.

Human Genomics, 2020

33287909 (PubMed )
Supplement: 40246_2020_296_MOESM2_ESM.xlsx › Table_S5

Paediatric-onset haploinsufficiency of A20 associated with a novel and de novo nonsense TNFAIP3 mutation.

Endo Y et al.

Rheumatology (oxford, England), 2020

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

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1

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

Martens A et al.

Cold Spring Harbor Perspectives in Biology, 2020

Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus.

Odqvist L et al.

Annals of the Rheumatic Diseases, 2019

Analysis of circulating tumor DNA by targeted ultra-deep sequencing across various non-Hodgkin lymphoma subtypes.

Shin SH et al.

Leukemia & Lymphoma, 2019

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

Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Vikova V et al.

Theranostics, 2019

30809292 (PubMed )
Supplement: thnov09p0540s1.pdf

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

Different genetic alteration of A20 in a Sézary syndrome case with Vα2-Jα22 T cell clone.

Zhou L et al.

Asia-pacific Journal of Clinical Oncology, 2018

An Autoimmune Disease-Associated Risk Variant in the TNFAIP3 Gene Plays a Protective Role in Brucellosis That Is Mediated by the NF-κB Signaling Pathway.

Lou L et al.

Journal of Clinical Microbiology, 2018

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094

A20/Tumor Necrosis Factor α-Induced Protein 3 in Immune Cells Controls Development of Autoinflammation and Autoimmunity: Lessons from Mouse Models.

Das T et al.

Frontiers in Immunology, 2018

TNFAIP3 F127C Coding Variation in Greek Primary Sjogren's Syndrome Patients.

Nezos A et al.

Journal of Immunology Research, 2018

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Ferreira MA et al.

Nature Genetics, 2017

29083406 (PubMed )
Supplement: NIHMS74439-supplement-Supplementary_tables.xlsx › ST12

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

Genetic and Functional Associations with Decreased Anti-inflammatory Tumor Necrosis Factor Alpha Induced Protein 3 in Macrophages from Subjects with Axial Spondyloarthritis.

Liu Y et al.

Frontiers in Immunology, 2017

Rheumatoid Arthritis: The Stride from Research to Clinical Practice.

Chung IM et al.

International Journal of Molecular Sciences, 2016

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

Chang YC et al.

Oncology Reports, 2016

Recurrent alterations of TNFAIP3 (A20) in T-cell large granular lymphocytic leukemia.

Johansson P et al.

International Journal of Cancer, 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."