Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A172A
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KCNH2

NM_000238.4:p.A172A

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

Sequence of gating charge movement and pore gating in HERG activation and deactivation pathways.

Goodchild SJ et al.

Biophysical Journal, 2015

Proline scan of the HERG channel S6 helix reveals the location of the intracellular pore gate.

Thouta S et al.

Biophysical Journal, 2014

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