Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.D223N
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KCNJ5

NM_000890.5:p.D223N

Associated Papers

Mutagenesis-Centered Integrative Approaches for Identifying Binding Sites in Ion Channels and Uncovering Modulatory Mechanisms.

Rosenhouse-Dantsker A

Advances in Experimental Medicine and Biology, 2026

From Crosstalk to Synergism: The Combined Effect of Cholesterol and PI(4,5)P2 on Inwardly Rectifying Potassium Channels.

Bukiya AN et al.

Advances in Experimental Medicine and Biology, 2023

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

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

Cholesterol increases the open probability of cardiac KACh currents.

Bukiya AN et al.

Biochimica Et Biophysica Acta, 2015

Hypercholesterolemia induces up-regulation of KACh cardiac currents via a mechanism independent of phosphatidylinositol 4,5-bisphosphate and Gβγ.

Deng W et al.

The Journal of Biological Chemistry, 2012

A sodium-mediated structural switch that controls the sensitivity of Kir channels to PtdIns(4,5)P(2).

Rosenhouse-Dantsker A et al.

Nature Chemical Biology, 2008

Eicosanoids inhibit the G-protein-gated inwardly rectifying potassium channel (Kir3) at the Na+/PIP2 gating site.

Rogalski SL et al.

The Journal of Biological Chemistry, 2001

Activation of inwardly rectifying K+ channels by distinct PtdIns(4,5)P2 interactions.

Zhang H et al.

Nature Cell Biology, 1999

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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."