Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.M406I
Back to variants list

NLRP3

NM_001243133.2:p.M406I

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

Diagnosis traps for patients with acquired NLRP3 mutation.

Cescato M et al.

European Journal of Internal Medicine, 2024

Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti-Interleukin-1 Therapy.

Birk-Bachar M et al.

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

HSP90β controls NLRP3 autoactivation.

Spel L et al.

Science Advances, 2024

38416826 (PubMed )
Supplement: sciadv.adj6289_sm.pdf

The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease.

Wu N et al.

Clinical Rheumatology, 2023

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

Graustein AD et al.

American Journal of Respiratory Cell and Molecular Biology, 2021

Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature.

Yokoi K et al.

Pediatric Rheumatology Online Journal, 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

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.

Naselli A et al.

The Journal of Rheumatology, 2016

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

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

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."