Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.E690K
Back to variants list

NLRP3

NM_001243133.2:p.E690K

Associated Papers

Rapid validation of NLRP3 gain-of-function variants in cryopyrin-associated periodic syndromes.

Quach A et al.

The Journal of Allergy and Clinical Immunology, 2025

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

Feng S et al.

Nature Immunology, 2025

Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.

Miyamoto T et al.

Arthritis & Rheumatology (hoboken, N.j.), 2024

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.

Cosson C et al.

The Journal of Experimental Medicine, 2024

1–50 of 94 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."