Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.K695M
Back to variants list

MEFV

NM_000243.3:p.K695M

Associated Papers

Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis.

Muhsinoglu O et al.

Ophthalmic Genetics, 2024

Neurological Face of Familial Mediterranean Fever.

Bektaş PC et al.

Turkish Archives of Pediatrics, 2022

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Dundar M et al.

Functional & Integrative Genomics, 2022

Prevalence of Familial Mediterranean Fever in Children with Cryptogenic Cirrhosis.

Varol Fİ et al.

Journal of Tropical Pediatrics, 2021

Long-term follow-up of paediatric MEFV carriers.

Makay B et al.

Clinical Rheumatology, 2018

Genetics in TNF-TNFR pathway: A complex network causing spondyloarthritis and conditioning response to anti-TNFα therapy.

Aita A et al.

Plos One, 2018

The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population.

Battal F et al.

Balkan Journal of Medical Genetics : Bjmg, 2016

The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T).

Coşkun S et al.

Gene, 2015

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

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Familial mediterranean fever: a fascinating model of inherited autoinflammatory disorder.

Portincasa P et al.

European Journal of Clinical Investigation, 2013

Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system.

Zamani AG et al.

Genetics and Molecular Research : Gmr, 2013

Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.

Yesilada E et al.

Gene, 2012

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."