Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.G328E
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NLRP3

NM_004895.5:p.G328E

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

Phenotypic and genotypic characterization of Chinese adult patients with NLRP3-associated autoinflammatory disease with hearing loss.

Wu B et al.

Rheumatology (oxford, England), 2024

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

Wu N et al.

Clinical Rheumatology, 2023

New retinal findings in NLRP3-associated autoinflammatory disease.

Wei Z et al.

Orphanet Journal of Rare Diseases, 2023

Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature.

Zhou Y et al.

Orphanet Journal of Rare Diseases, 2022

Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease.

Meng T et al.

Scientific Reports, 2021

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

[Report of a child with neonatal-onset multisystem inflammatory disease and review of the literature].

Guan N et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

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

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

The anesthetic management of children with neonatal-onset multi-system inflammatory disease.

Lauro CF et al.

Anesthesia and Analgesia, 2007

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.

Aksentijevich I et al.

Arthritis and Rheumatism, 2007

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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