Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ18
Variant:p.Q407*
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KCNJ18

NM_001194958.2:p.Q407*

Associated Papers

Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.

Birch CL et al.

Journal of Translational Medicine, 2025

Nutrigenomics of inward rectifier potassium channels.

Ferreira G et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.

Bar O et al.

Frontiers in Neurology, 2023

Contribution of Asian Haplotype of KCNJ18 to Susceptibility to and Ethnic Differences in Thyrotoxic Periodic Paralysis.

Noso S et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.

Paninka RM et al.

Molecular Genetics and Genomics : Mgg, 2016

A novel Kir2.6 mutation associated with hypokalemic periodic paralysis.

Zheng J et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2016

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.

Kuhn M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis.

Zapata M et al.

Biology Open, 2014

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Ryan DP et al.

Cell, 2010

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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."