Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.T436I
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NLRP3

NM_001243133.2:p.T436I

Associated Papers

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

Feng S et al.

Nature Immunology, 2025

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

Erythema nodosum in an adolescent patient with cryopyrin-associated periodic syndrome.

Chan L et al.

Clinical Case Reports, 2018

Neurology of the cryopyrin-associated periodic fever syndrome.

Parker T et al.

European Journal of Neurology, 2016

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases.

Jha S et al.

Journal of Immunology (baltimore, Md. : 1950), 2009

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.

Jesus AA et al.

Journal of Clinical Immunology, 2008

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

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

Neven B et al.

Blood, 2004

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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."