Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.S208T
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MEFV

NM_000243.3:p.S208T

Associated Papers

New Diseases Linked to MEFV Variants or Pyrinopathies.

Mertz P et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

In Silico Study of Pyrin and 14-3-3 Protein Modulation During FMF and PAAND.

Paronyan A et al.

Acs Omega, 2025

[Monogenic and acquired autoinflammatory diseases].

Szekanecz Z et al.

Orvosi Hetilap, 2024

Pyrin-associated autoinflammation with neutrophilic dermatosis related to heterozygous MEFV gene variants in cis: Two case reports in a family.

Wu N et al.

Gene, 2024

The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.

La Bella S et al.

Frontiers in Immunology, 2023

CDC42 regulates PYRIN inflammasome assembly.

Spel L et al.

Cell Reports, 2022

Is neutrophilic dermatosis a manifestation of familial Mediterranean fever?

Delplanque M et al.

Scandinavian Journal of Rheumatology, 2022

Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

Honda Y et al.

Journal of Clinical Immunology, 2021

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

Tufan A et al.

Turkish Journal of Medical Sciences, 2020

TRAP1 chaperone protein mutations and autoinflammation.

Standing AS et al.

Life Science Alliance, 2020

Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.

Kacar M et al.

Rheumatology (oxford, England), 2019

Autoinflammation due to homozygous S208 MEFV mutation.

Hong Y et al.

Annals of the Rheumatic Diseases, 2019

The Pyrin Inflammasome in Health and Disease.

Schnappauf O et al.

Frontiers in Immunology, 2019

The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey.

Kilinc M et al.

Rheumatology International, 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."