Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.E313K
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NLRP3

NM_004895.5:p.E313K

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Sensorineural hearing loss in anti-interleukin-1 treated CAPS patients: risk factors and real-life barriers-an observational study.

Satirer Ö et al.

Rheumatology (oxford, England), 2025

Refining treat-to-target strategies in cryopyrin-associated periodic syndromes: the role of inflammatory markers.

Satirer Ö et al.

Rheumatology (oxford, England), 2025

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

Long-term renal outcome of Cryopyrin-associated periodic syndrome (CAPS) under anti-Interleukin-1 therapy.

Russwurm M et al.

Scientific Reports, 2024

Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.

Miyamoto T et al.

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

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.

Cosson C et al.

The Journal of Experimental Medicine, 2024

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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."