Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.L3Q
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KCNE1

NM_000219.6:p.L3Q

Associated Papers

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Muhammad A et al.

Genome Medicine, 2024

38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM3_ESM.xlsx › SpliceAI

Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome.

Gray B et al.

Circulation. Genomic and Precision Medicine, 2022

Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.

Du C et al.

Physiological Reports, 2013

The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.

Hedley PL et al.

Journal of Negative Results in Biomedicine, 2011

Pharmacogenetics of drug-induced arrhythmias.

Abbott GW et al.

Expert Review of Clinical Pharmacology, 2008

Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.

Ackerman MJ et al.

Mayo Clinic Proceedings, 2003

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.

Abbott GW et al.

Cell, 1999

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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."