Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.G632S
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MEFV

NM_000243.3:p.G632S

Associated Papers

Still's Disease and Autoinflammation: Positioning an Inflammatory Syndrome on the Autoinflammation-Autoimmunity Spectrum.

Pietsch D et al.

Current Rheumatology Reports, 2026

Identification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report.

Choi SR et al.

Journal of Rheumatic Diseases, 2025

Non-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort.

Giat E et al.

Seminars in Arthritis and Rheumatism, 2025

Molecular analyses of MEFV gene mutation variants in Turkish population.

Aksoy R et al.

Molecular Biology Reports, 2024

Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.

Prieto-Peña D et al.

Frontiers in Immunology, 2024

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Gaggiano C et al.

Mediators of Inflammation, 2019

Serum amyloid A1 (SAA1) gene polymorphisms in Japanese patients with adult-onset Still's disease.

Yashiro M et al.

Medicine, 2018

Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still's disease.

Asano T et al.

Arthritis Research & Therapy, 2017

A Japanese familial Mediterranean fever patient with a rare G632S MEFV mutation in exon 10.

Umeda M et al.

Modern Rheumatology, 2017

Familial Mediterranean fever is no longer a rare disease in Japan.

Migita K et al.

Arthritis Research & Therapy, 2016

Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease.

Nonaka F et al.

Clinical and Experimental Immunology, 2015

Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.

Oztuzcu S et al.

Molecular Biology Reports, 2014

Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk.

Ebrahimi-Fakhari D et al.

Scandinavian Journal of Rheumatology, 2013

The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever.

Weinert C et al.

Journal of Molecular Biology, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.

Shinar Y et al.

Rheumatology (oxford, England), 2007

Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).

Goulielmos GN et al.

Biochemical and Biophysical Research Communications, 2006

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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."