Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.S710C
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NLRP3

NM_001243133.2:p.S710C

Associated Papers

Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.

Feng S et al.

Nature Immunology, 2025

39930093 (PubMed )
Supplement: 41590_2025_2088_MOESM3_ESM.xlsx › Table_1

The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease.

Wu N et al.

Clinical Rheumatology, 2023

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

Two SNPs in NLRP3 gene are involved in the predisposition to type-1 diabetes and celiac disease in a pediatric population from northeast Brazil.

Pontillo A et al.

Autoimmunity, 2010

PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation.

Jéru I et al.

Arthritis and Rheumatism, 2006

Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.

Cantarini L et al.

International Journal of Immunopathology and Pharmacology, 0

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