Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.E224K
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KCNJ2

NM_000891.3:p.E224K

Associated Papers

Mechanism for attenuated outward conductance induced by mutations in the cytoplasmic pore of Kir2.1 channels.

Chang HK et al.

Scientific Reports, 2015

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

Electrostatics in the cytoplasmic pore produce intrinsic inward rectification in kir2.1 channels.

Yeh SH et al.

The Journal of General Physiology, 2005

A ring of negative charges in the intracellular vestibule of Kir2.1 channel modulates K+ permeation.

Chang HK et al.

Biophysical Journal, 2005

Regulation of gating by negative charges in the cytoplasmic pore in the Kir2.1 channel.

Xie LH et al.

The Journal of Physiology, 2004

Inwardly rectifying potassium channels expressed by gene transfection into the green Monkey kidney cell line COS-1.

Omori K et al.

The Journal of Physiology, 1997

Determination of the subunit stoichiometry of an inwardly rectifying potassium channel.

Yang J et al.

Neuron, 1995

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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."