Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G626A
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KCNQ1

NM_000218.3:p.G626A

Associated Papers

Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Zhang Y et al.

Frontiers in Pharmacology, 2022

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

Molecular Pathophysiology of Congenital Long QT Syndrome.

Bohnen MS et al.

Physiological Reviews, 2017

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Napolitano C et al.

Jama, 2005

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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."