Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.Q636E
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NLRP3

NM_001243133.2:p.Q636E

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

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.

Bonet N et al.

Journal of Clinical Immunology, 2025

41026232 (PubMed )
Supplement: 10875_2025_1922_MOESM1_ESM.docx

VEXAS syndrome: Current clinical, diagnostic and treatment approaches.

Kobak S

Intractable & Rare Diseases Research, 2023

Schnitzler syndrome and Schnitzler-like syndromes.

Chu CQ

Chinese Medical Journal, 2022

An updated review on phenocopies of primary immunodeficiency diseases.

Singh A et al.

Genes & Diseases, 2020

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

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

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.

Mensa-Vilaro A et al.

Arthritis & Rheumatology (hoboken, N.j.), 2016

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.

Bujan-Rivas S et al.

Clinical and Experimental Rheumatology, 0

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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."