Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.I310T
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TNFAIP3

NM_001270508.2:p.I310T

Associated Papers

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

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

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

Karri U et al.

Journal of Clinical Immunology, 2024

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

El Khouri E et al.

Elife, 2023

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

Tian Y et al.

Frontiers in Immunology, 2022

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

Kadowaki S et al.

Arthritis Research & Therapy, 2021

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."