Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.E544A
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KCNH2

NM_000238.4:p.E544A

Associated Papers

A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.

Alameh M et al.

Frontiers in Physiology, 2023

36860515 (PubMed )
Supplement: Table1.XLSX › missense_variants

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

32431610 (PubMed )
Supplement: Table_1.xlsx › mutation_list

Tyrosine Residues from the S4-S5 Linker of Kv11.1 Channels Are Critical for Slow Deactivation.

Ng CA et al.

The Journal of Biological Chemistry, 2016

Molecular determinants of pentamidine-induced hERG trafficking inhibition.

Dennis AT et al.

Molecular Pharmacology, 2012

The S4-S5 linker acts as a signal integrator for HERG K+ channel activation and deactivation gating.

Ng CA et al.

Plos One, 2012

A plethora of mechanisms in the HERG-related long QT syndrome. Genetics meets electrophysiology.

Roden DM et al.

Cardiovascular Research, 1999

Mutations of the S4-S5 linker alter activation properties of HERG potassium channels expressed in Xenopus oocytes.

Sanguinetti MC et al.

The Journal of Physiology, 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."