Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.F302L
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NLRP3

NM_001243133.2:p.F302L

Associated Papers

Longitudinal Analysis of Somatic Mosaicism and Clonal Hematopoiesis in Cryopyrin-Associated Periodic Syndrome.

Kato K et al.

Arthritis & Rheumatology (hoboken, N.j.), 2026

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

Feng S et al.

Nature Immunology, 2025

Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.

Samson JM et al.

Frontiers in Immunology, 2020

Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.

Labrousse M et al.

Critical Reviews in Clinical Laboratory Sciences, 2018

Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing.

Izawa K et al.

Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2012

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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."