Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.T647P
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TNFAIP3

NM_001270508.2:p.T647P

Associated Papers

Large-scale DNA sequencing identifies rare variants associated with Systemic Lupus Erythematosus susceptibility in known risk genes.

Latini A et al.

Gene, 2024

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

Karri U et al.

Journal of Clinical Immunology, 2024

In-depth molecular analysis of lymphomas with lymphoplasmacytic differentiation may provide more precise diagnosis and rational treatment allocation.

Brunner A et al.

Annals of Hematology, 2024

Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.

Prieto-Peña D et al.

Frontiers in Immunology, 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

Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.

Bastos-Oreiro M et al.

Scientific Reports, 2021

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

Chen C et al.

Cancer Cell International, 2021

Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.

Bruzas S et al.

Cancers, 2021

34572791 (PubMed )
Supplement: cancers-13-04564-s001.zip › cancers-1336427-supplementary › Supplementary_material › Table_S1_-_Genetic_alterations_identified_by_NGS_in_95_patients_with_metastatic_breast_cancer.xlsx › Table_S1

Next-generation sequencing in thyroid cancers: do targetable alterations lead to a therapeutic advantage?: A multicenter experience.

Moore A et al.

Medicine, 2021

The genomic landscape of pediatric rheumatology disorders in the Middle East.

Fathalla BM et al.

Human Mutation, 2021

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

Kadowaki S et al.

Arthritis Research & Therapy, 2021

Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Scheipl S et al.

Therapeutic Advances in Medical Oncology, 2021

34367342 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359211029125.xlsx › FMI_Archer

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

Janus kinase 1/2 inhibition for the treatment of autoinflammation associated with heterozygous TNFAIP3 mutation.

Mulhern CM et al.

The Journal of Allergy and Clinical Immunology, 2019

Targeted next generation sequencing reveals high mutation frequency of CREBBP, BCL2 and KMT2D in high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.

Evrard SM et al.

Haematologica, 2019

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

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

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

Musone SL et al.

Genes and Immunity, 2011

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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."