Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.Y81C
Back to variants list

KCNE1

NM_000219.6:p.Y81C

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

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 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

Whole-Genome DNA Methylation Profiling of Intrahepatic Cholangiocarcinoma Reveals Prognostic Subtypes with Distinct Biological Drivers.

Liao H et al.

Cancer Research, 2024

38471085 (PubMed )
Supplement: can-23-3298_supplementary_tables_suppst1-11.xlsx › Supplementary_Table_S8

Prioritize Variant Reclassification in Pediatric Long QT Syndrome-Time to Revisit.

Leung HT et al.

Pediatric Cardiology, 2024

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

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

Faridi R et al.

Human Mutation, 2019

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

Identification of a protein-protein interaction between KCNE1 and the activation gate machinery of KCNQ1.

Lvov A et al.

The Journal of General Physiology, 2010

Analysis of the interactions between the C-terminal cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.

Zheng R et al.

The Biochemical Journal, 2010

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

Sand PG et al.

Genes, 2010

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

Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

Lai LP et al.

Journal of Human Genetics, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."