Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.T265I
Back to variants list

KCNQ1

NM_000218.3:p.T265I

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-2.xlsx › File_S2

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

NaV1.5 autoantibodies in Brugada syndrome: pathogenetic implications.

Tarantino A et al.

European Heart Journal, 2024

39078224 (PubMed )
Supplement: ehae480_supplementary_data.zip › Supplementary_data_Rev3_add_exp_PL.pdf

Pharmacological rescue of specific long QT variants of KCNQ1/KCNE1 channels.

Zou X et al.

Frontiers in Physiology, 2022

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S12

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?

Rice KS et al.

Heart Rhythm, 2011

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

Yang T et al.

Circulation. Arrhythmia and Electrophysiology, 2009

QT interval prolongation associated with sibutramine treatment.

Harrison-Woolrych M et al.

British Journal of Clinical Pharmacology, 2006

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."