Varaico: Literature-Extracted Genetic Variants

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

NLRP3

NM_004895.5:p.E690K

Associated Papers

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

Feng S et al.

Nature Immunology, 2025

Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis.

Graustein AD et al.

American Journal of Respiratory Cell and Molecular Biology, 2021

Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra.

Kim BJ et al.

Rheumatology (oxford, England), 2021

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

Novel double heterozygous mutations in MEFV and NLRP3 genes in a patient with familial Mediterranean fever.

Timerman D et al.

Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2013

In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome.

Kubota K et al.

Journal of Clinical Immunology, 2013

Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients.

Ohnishi H et al.

Journal of Clinical Immunology, 2012

The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.

Cantarini L et al.

International Journal of Immunopathology and Pharmacology, 0

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."