Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.R260H
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KCNJ2

NM_000891.3:p.R260H

Associated Papers

Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.

Vivekanandam V et al.

Brain : a Journal of Neurology, 2022

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_Gnomad_0325322.xlsx › Sheet1

Andersen-Tawil Syndrome Presenting with Complete Heart Block.

Suetterlin K et al.

Journal of Neuromuscular Diseases, 2021

Charges in the cytoplasmic pore control intrinsic inward rectification and single-channel properties in Kir1.1 and Kir2.1 channels.

Chang HK et al.

The Journal of Membrane Biology, 2007

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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."