Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.A89T
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MEFV

NM_000243.3:p.A89T

Associated Papers

Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.

Elhani I et al.

Rmd Open, 2024

Complex formation dynamics of native and mutated pyrin's B30.2 domain with caspase-1.

Arakelov G et al.

Proteins, 2018

Function and mechanism of the pyrin inflammasome.

Heilig R et al.

European Journal of Immunology, 2018

Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.

Petrushkin H et al.

Ocular Immunology and Inflammation, 2016

Identification of multifaceted binding modes for pyrin and ASC pyrin domains gives insights into pyrin inflammasome assembly.

Vajjhala PR et al.

The Journal of Biological Chemistry, 2014

Unified polymerization mechanism for the assembly of ASC-dependent inflammasomes.

Lu A et al.

Cell, 2014

Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC.

Cazeneuve C et al.

Journal of Medical Genetics, 2004

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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."