Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G800W
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KCNH2

NM_000238.4:p.G800W

Associated Papers

Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning.

Immadisetty K et al.

Journal of Molecular and Cellular Cardiology, 2023

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Fazelifar AF et al.

Journal of Arrhythmia, 2023

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

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

Anderson CL et al.

Nature Communications, 2014

The structural mechanism of KCNH-channel regulation by the eag domain.

Haitin Y et al.

Nature, 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."