Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.H312P
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NLRP3

NM_001243133.2:p.H312P

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

Comprehensive review of ASC structure and function in immune homeostasis and disease.

Agrawal I et al.

Molecular Biology Reports, 2020

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

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

Nakagawa K et al.

Annals of the Rheumatic Diseases, 2015

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

Inhibition of the NF-κB pathway as a candidate therapeutic strategy for cryopyrin-associated periodic syndrome.

Shimogaki S et al.

Modern Rheumatology, 2014

CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction.

Ito S et al.

Arthritis Research & Therapy, 2014

Cryopyrin-associated periodic syndrome: a case report and review of the Japanese literature.

Aoyama K et al.

Acta Dermato-venereologica, 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

[CAPS: cryopyrin-associated periodic syndrome].

Saito MK

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2011

A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin).

Koike R et al.

Modern Rheumatology, 2007

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

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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."