Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.A125V
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TNFAIP3

NM_001270508.2:p.A125V

Associated Papers

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

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

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

Zammit NW et al.

Frontiers in Immunology, 2022

Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.

Akhtar M et al.

Biology, 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

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

Martens A et al.

Cold Spring Harbor Perspectives in Biology, 2020

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations

Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.

Karanovic D et al.

Frontiers in Immunology, 2019

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

Single nucleotide polymorphisms in TNFAIP3 were associated with the risks of rheumatoid arthritis in northern Chinese Han population.

Zhang X et al.

Bmc Medical Genetics, 2014

Single nucleotide polymorphisms at the TNFAIP3/A20 locus and susceptibility/resistance to inflammatory and autoimmune diseases.

Mele A et al.

Advances in Experimental Medicine and Biology, 2014

TNFAIP3 rs2230926 polymorphisms in rheumatoid arthritis of southern Chinese Han population: a case-control study.

Hao G et al.

International Journal of Clinical and Experimental Pathology, 2014

A20: linking a complex regulator of ubiquitylation to immunity and human disease.

Ma A et al.

Nature Reviews. Immunology, 2012

Genetic relationships between A20/TNFAIP3, chronic inflammation and autoimmune disease.

Vereecke L et al.

Biochemical Society Transactions, 2011

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus.

Adrianto I et al.

Nature Genetics, 2011

African-derived genetic polymorphisms in TNFAIP3 mediate risk for autoimmunity.

Lodolce JP et al.

Journal of Immunology (baltimore, Md. : 1950), 2010

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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."