Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.T267I
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CASP1

NM_001257118.3:p.T267I

Associated Papers

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

Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory disease.

Luksch H et al.

Current Rheumatology Reports, 2015

Human procaspase-1 variants with decreased enzymatic activity are associated with febrile episodes and may contribute to inflammation via RIP2 and NF-κB signaling.

Heymann MC et al.

Journal of Immunology (baltimore, Md. : 1950), 2014

MEFV gene mutations in Turkish children with juvenile idiopathic arthritis.

Comak E et al.

European Journal of Pediatrics, 2013

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

Luksch H et al.

Human Mutation, 2013

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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."