Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.C81F
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TNFRSF1A

NM_001065.4:p.C81F

Associated Papers

TNF Receptor-Associated Periodic Syndrome: An Analysis of a Slovakian Cohort of TRAPS Patients.

Slenker B et al.

Archives of Rheumatology, 2025

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.

Topping J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.

Delaleu J et al.

Rheumatology (oxford, England), 2021

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.

Rittore C et al.

Scientific Reports, 2021

Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.

Cudrici C et al.

International Journal of Molecular Sciences, 2020

Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.

Tsuji S et al.

Clinical and Experimental Immunology, 2019

Treating TNF Receptor Associated Periodic Fever Syndrome in End-Stage Renal Failure.

Coutinho J et al.

Case Reports in Nephrology, 2019

Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.

Sighart R et al.

Rheumatology International, 2018

A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS).

Churchman SM et al.

Annals of the Rheumatic Diseases, 2008

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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."