Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.R176W
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NLRP3

NM_001243133.2:p.R176W

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

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

Samson JM et al.

Frontiers in Immunology, 2020

Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine.

Yao Q et al.

Autoimmunity, 2019

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.

Boudellioua I et al.

Scientific Reports, 2018

30279426 (PubMed )
Supplement: 41598_2018_32876_MOESM1_ESM.pdf

Evidence of digenic inheritance in autoinflammation-associated genes.

Neocleous V et al.

Journal of Genetics, 2016

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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."