Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R231S
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KCNQ1

NM_000218.3:p.R231S

Associated Papers

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.

Harvey ML et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445606 (PubMed )
Supplement: media-1.docx

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2

Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.

Sveinbjornsson G et al.

Journal of the American Heart Association, 2023

Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.

Lin Y et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020

[Atrial fibrillation in the long QT syndrome].

Zienciuk A et al.

Kardiologia Polska, 2009

Disease-linked supertrafficking of a potassium channel.

Huang H et al.

The Journal of Biological Chemistry, 0

33600800 (PubMed )
Supplement: mmc1.pdf
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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."