Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.N477K
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NLRP3

NM_001243133.2:p.N477K

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

Novel chemotype NLRP3 inhibitors that target the CRID3-binding pocket with high potency.

Vande Walle L et al.

Life Science Alliance, 2024

The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.

Putnam CD et al.

Immunological Reviews, 2024

HSP90β controls NLRP3 autoactivation.

Spel L et al.

Science Advances, 2024

38416826 (PubMed )
Supplement: sciadv.adj6289_sm.pdf

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

Graustein AD et al.

American Journal of Respiratory Cell and Molecular Biology, 2021

A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors.

Bertoni A et al.

The Journal of Allergy and Clinical Immunology, 2020

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

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

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

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

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

Role of IL-1 beta in the development of human T(H)17 cells: lesson from NLPR3 mutated patients.

Lasigliè D et al.

Plos One, 2011

Diagnosis and management of autoinflammatory diseases in childhood.

Gattorno M et al.

Journal of Clinical Immunology, 2008

Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.

Saito M et al.

Blood, 2008

A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome.

Takada H et al.

European Journal of Pediatrics, 2005

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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."