Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.K525R
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KCNH2

NM_000238.4:p.K525R

Associated Papers

An LQT2-related mutation in the voltage-sensing domain is involved in switching the gating polarity of hERG.

Liu Z et al.

Bmc Biology, 2024

NS1643 interacts around L529 of hERG to alter voltage sensor movement on the path to activation.

Guo J et al.

Biophysical Journal, 2015

Functional interactions of voltage sensor charges with an S2 hydrophobic plug in hERG channels.

Cheng YM et al.

The Journal of General Physiology, 2013

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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."