Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.E284K
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KCNQ1

NM_000218.3:p.E284K

Associated Papers

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

Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.

Yee LA et al.

Journal of the American Heart Association, 2022

36102233 (PubMed )
Supplement: JAH3-11-e025108-s001.pdf

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.pdf

Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation.

Aoki H et al.

Journal of Arrhythmia, 2017

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Lieve KV et al.

Genetic Testing and Molecular Biomarkers, 2013

23631430 (PubMed )
Supplement: sj-doc-1-gtm-10.1089_gtmb.2012.0118.doc

Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.

Jons C et al.

Journal of Cardiovascular Electrophysiology, 2009

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Moss AJ et al.

Circulation, 2007

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

Zareba W et al.

Journal of Cardiovascular Electrophysiology, 2003

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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."