Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ18
Variant:p.R43C
Back to variants list

KCNJ18

NM_001194958.2:p.R43C

Associated Papers

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

Inwardly Rectifying Potassium Channel Kir2.1 and its "Kir-ious" Regulation by Protein Trafficking and Roles in Development and Disease.

Hager NA et al.

Frontiers in Cell and Developmental Biology, 2021

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

Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.

Cheng CJ et al.

The Journal of Biological Chemistry, 2011

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."