Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.S209F
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KCNQ1

NM_000218.3:p.S209F

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

Structure-guided unlocking of NaX reveals a non-selective tetrodotoxin-sensitive cation channel.

Noland CL et al.

Nature Communications, 2022

35301303 (PubMed )
Supplement: 41467_2022_28984_MOESM1_ESM.pdf

KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Streeten EA et al.

Circulation. Genomic and Precision Medicine, 2020

33141630 (PubMed )
Supplement: hcg-13-e003133-s002.xls › Supplemental_Table_9.

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.

Wang Y et al.

Frontiers in Physiology, 2020

Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.

Jalily Hasani H et al.

Plos One, 2018

29444113 (PubMed )
Supplement: pone.0191905.s001.pdf

Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.

Leong IU et al.

Bmc Medical Genetics, 2015

25967940 (PubMed )
Supplement: 12881_2015_176_MOESM1_ESM.xlsx › EVERYTHING

Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1.

Eldstrom J et al.

Heart Rhythm, 2015

Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Ruklisa D et al.

Genome Medicine, 2015

25649125 (PubMed )
Supplement: 13073_2014_120_MOESM1_ESM.pdf

Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

Eldstrom J et al.

The Journal of General Physiology, 2010

Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation.

Das S et al.

Heart Rhythm, 2009

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.

Arbour L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Napolitano C et al.

Jama, 2005

A novel KCNQ1 variant (L203P) associated with torsades de pointes-related syncope in a Steinert syndrome patient.

Patoine D et al.

The Canadian Journal of Cardiology, 0

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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."