Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.P247L
Back to variants list

TNFAIP3

NM_001270508.2:p.P247L

Associated Papers

Case Report: Exploring the spectrum of A20 haploinsufficiency in children.

Jayaraman S et al.

Frontiers in Pediatrics, 2025

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

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling.

Motegi T et al.

Annals of the Rheumatic Diseases, 2019

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AD

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."