Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ18
Variant:p.R399*
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KCNJ18

NM_001194958.2:p.R399*

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

Genomic alterations in normal breast tissues preceding breast cancer diagnosis.

Dai J et al.

Breast Cancer Research : Bcr, 2025

40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S2

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2G.Vars_in_all_genes_Family

Nutrigenomics of inward rectifier potassium channels.

Ferreira G et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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

Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.

Modi BP et al.

Bmc Medical Genetics, 2018

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."