Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.I480F
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NLRP3

NM_001243133.2:p.I480F

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

Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis.

Graustein AD et al.

American Journal of Respiratory Cell and Molecular Biology, 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

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

Rusmini M et al.

Annals of the Rheumatic Diseases, 2016

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

A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra.

Dalgic B et al.

Pediatric Nephrology (berlin, Germany), 2007

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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."