Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.F275S
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KCNQ1

NM_000218.3:p.F275S

Associated Papers

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

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

Brewer KR et al.

Frontiers in Pharmacology, 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

Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations - R380S and W305L.

Zhou H et al.

Cardiology in the Young, 2016

[High incidence of sudden cardiac death in one family with type-3 long QT syndrome: molecular genetics and electrophysiology mechanism analysis].

Zhou H et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2015

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

A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L.

Chen J et al.

Pacing and Clinical Electrophysiology : Pace, 2011

Congenital long QT syndrome caused by the F275S KCNQ1 mutation: mechanism of impaired channel function.

Li W et al.

Biochemical and Biophysical Research Communications, 2009

Structural models for the KCNQ1 voltage-gated potassium channel.

Smith JA et al.

Biochemistry, 2007

[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].

Li CL et al.

Zhonghua Nei Ke Za Zhi, 2007

[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].

Liu WL et al.

Zhonghua Nei Ke Za Zhi, 2006

[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].

Liu WL et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2005

[The mutation scanning of KCNQ1 gene for 31 long QT syndrome families].

Li P et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome.

Liu W et al.

Chinese Medical Journal, 2003

KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

Liu W et al.

Human Mutation, 2002

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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."