Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.W87R
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KCNE1

NM_000219.6:p.W87R

Associated Papers

Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.

Vanoye CG et al.

Circulation. Genomic and Precision Medicine, 2025

Functions of the KCNE Gene Family in Ion Channels.

Xiao J et al.

Biochemical Genetics, 2025

Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.

Vanoye CG et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Muhammad A et al.

Genome Medicine, 2024

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

Muhammad A et al.

Biorxiv : the Preprint Server for Biology, 2023

Impaired Adrenergic/Protein Kinase A Response of Slow Delayed Rectifier Potassium Channels as a Long QT Syndrome Motif: Importance and Unknowns.

Policarová M et al.

The Canadian Journal of Cardiology, 2019

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Faridi R et al.

Human Mutation, 2019

Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Chen L et al.

Cardiac Electrophysiology Clinics, 2016

KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.

Abbott GW

Gene, 2016

Arrhythmogenic KCNE gene variants: current knowledge and future challenges.

Crump SM et al.

Frontiers in Genetics, 2014

24478792 (PubMed )
Supplement: DataSheet1.DOCX

A replication study on proposed candidate genes in Ménière's disease, and a review of the current status of genetic studies.

Hietikko E et al.

International Journal of Audiology, 2012

An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.

Sand PG et al.

Genes, 2010

The role of abnormal trafficking of KCNE1 in long QT syndrome 5.

Harmer SC et al.

Biochemical Society Transactions, 2007

N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.

Ohno S et al.

Heart Rhythm, 2007

Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function.

Wu DM et al.

Heart Rhythm, 2006

Mutations in KCNE1 in long QT syndrome (LQTS): insights into mechanism of LQTS and drug sensitivity?

Vatta M et al.

Heart Rhythm, 2006

Autonomic control of cardiac action potentials: role of potassium channel kinetics in response to sympathetic stimulation.

Terrenoire C et al.

Circulation Research, 2005

[A novel KCNQ1 mutation in Chinese with congenital long QT syndrome].

Liang L et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2003

Characterization of a novel Long QT syndrome mutation G52R-KCNE1 in a Chinese family.

Ma L et al.

Cardiovascular Research, 2003

Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.

Kurokawa J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2003

Molecular mechanisms underlying the long QT syndrome.

Dumaine R et al.

Current Opinion in Cardiology, 2002

A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.

Schulze-Bahr E et al.

Journal of Molecular Medicine (berlin, Germany), 2001

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

MinK subdomains that mediate modulation of and association with KvLQT1.

Tapper AR et al.

The Journal of General Physiology, 2000

Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.

Bianchi L et al.

Human Molecular Genetics, 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."