Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.D303G
Back to variants list

NLRP3

NM_001243133.2:p.D303G

Associated Papers

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.

Bonet N et al.

Journal of Clinical Immunology, 2025

41026232 (PubMed )
Supplement: 10875_2025_1922_MOESM1_ESM.docx

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

Phenotypic and genotypic characterization of Chinese adult patients with NLRP3-associated autoinflammatory disease with hearing loss.

Wu B et al.

Rheumatology (oxford, England), 2024

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

Wu N et al.

Clinical Rheumatology, 2023

Clinical benefits of TNF-α inhibitors in Chinese adult patients with NLRP3-associated autoinflammatory disease.

Wu N et al.

Journal of Internal Medicine, 2021

Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease.

Meng T et al.

Scientific Reports, 2021

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

Kim BJ et al.

Rheumatology (oxford, England), 2021

Neurological manifestations of autoinflammatory diseases in Chinese adult patients.

Qin W et al.

Seminars in Arthritis and Rheumatism, 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

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

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases.

Jha S et al.

Journal of Immunology (baltimore, Md. : 1950), 2009

[Clinical features of Blau syndrome and early-onset sarcoidosis and associating CARD15/NOD2 gene mutations].

Kanazawa N

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2007

PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation.

Jéru I et al.

Arthritis and Rheumatism, 2006

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

Neven B et al.

Blood, 2004

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."