Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.E692K
Back to variants list

NLRP3

NM_001243133.2:p.E692K

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

Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.

Lin B et al.

The Journal of Allergy and Clinical Immunology, 2022

Human Autoinflammatory Diseases Mediated by NLRP3-, Pyrin-, NLRP1-, and NLRC4-Inflammasome Dysregulation Updates on Diagnosis, Treatment, and the Respective Roles of IL-1 and IL-18.

Alehashemi S et al.

Frontiers in Immunology, 2020

Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.

Samson JM et al.

Frontiers in Immunology, 2020

33329557 (PubMed )
Supplement: DataSheet_1.docx
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."