Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.Y441H
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NLRP3

NM_001243133.2:p.Y441H

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

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

The inflammasome, an innate immunity guardian, participates in skin urticarial reactions and contact hypersensitivity.

Kambe N et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2010

Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.

Saito M et al.

Blood, 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."