Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.H49R
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NLRP3

NM_001243133.2:p.H49R

Associated Papers

Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.

Feng S et al.

Nature Immunology, 2025

Directionality of PYD filament growth determined by the transition of NLRP3 nucleation seeds to ASC elongation.

Hochheiser IV et al.

Science Advances, 2022

35559676 (PubMed )
Supplement: sciadv.abn7583_data_file_s1.zip › sciadv.abn7583_data_file_s1.xlsx › Fig._3D

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

Samson JM et al.

Frontiers in Immunology, 2020

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

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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."