Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.T174T
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KCNH2

NM_000238.4:p.T174T

Associated Papers

High-throughput screens identify genotype-specific therapeutics for channelopathies.

Egly CL et al.

Jci Insight, 2025

41026531 (PubMed )
Supplement: jciinsight-10-191697-s190.xlsx › Figure_6B

The neutral, hydrophobic isoleucine at position I521 in the extracellular S4 domain of hERG contributes to channel gating equilibrium.

Dou Y et al.

American Journal of Physiology. Cell Physiology, 2013

Movement of the S4 segment in the hERG potassium channel during membrane depolarization.

Elliott DJ et al.

Molecular Membrane Biology, 2009

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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."