Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R1005Q
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KCNH2

NM_000238.4:p.R1005Q

Associated Papers

Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).

Wilson GN et al.

Current Issues in Molecular Biology, 2024

38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants

H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.

Farrugia A et al.

International Journal of Molecular Sciences, 2021

Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo-EM hERG structure.

Zhang Y et al.

Physiological Reports, 2020

Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Anderson CL et al.

Nature Communications, 2014

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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."