Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.V178I
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KCNJ5

NM_000890.5:p.V178I

Associated Papers

Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.

Li W et al.

Stroke and Vascular Neurology, 2024

37495379 (PubMed )
Supplement: svn-2022-002158supp001.pdf

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

A molecular switch controls the impact of cholesterol on a Kir channel.

Corradi V et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Cholesterol-Binding Sites in GIRK Channels: The Devil is in the Details.

Rosenhouse-Dantsker A

Lipid Insights, 2018

Synergistic activation of G protein-gated inwardly rectifying potassium channels by cholesterol and PI(4,5)P2.

Bukiya AN et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

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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."