Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.F617V
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KCNH2

NM_000238.4:p.F617V

Associated Papers

Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.

Liu H et al.

Pacing and Clinical Electrophysiology : Pace, 2025

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

Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families.

Szperl M et al.

Journal of Applied Genetics, 2018

A novel life-threatening mutation in long QT2 syndrome.

Biernacka E et al.

Kardiologia Polska, 2015

Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.

Perry MD et al.

The Journal of Biological Chemistry, 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."