Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.L361W
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NLRP3

NM_004895.5:p.L361W

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 discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.

Putnam CD et al.

Immunological Reviews, 2024

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

Wu N et al.

Clinical Rheumatology, 2023

Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn.

Xie M et al.

Frontiers in Immunology, 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

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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."