Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.I145I
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KCNQ1

NM_000218.3:p.I145I

Associated Papers

A method of identifying the high-risk mutations of sudden cardiac death at KCNQ1 and KCNH2 genes.

Wang J et al.

Journal of Forensic and Legal Medicine, 2024

Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Lei P et al.

Plos One, 2022

36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData

Relationship between KCNQ1 (LQT1) and KCNH2 (LQT2) gene mutations and sudden death during illegal drug use.

Nagasawa S et al.

Scientific Reports, 2018

Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory.

Chae H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

Genetic variants in KCNE1, KCNQ1, and NOS1AP in sudden unexplained death during daily activities in Chinese Han population.

Huang J et al.

Journal of Forensic Sciences, 2015

Molecular analysis of potassium ion channel genes in sudden death cases among patients administered psychotropic drug therapy: are polymorphisms in LQT genes a potential risk factor?

Kamei S et al.

Journal of Human Genetics, 2014

Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population.

Liu C et al.

Forensic Science International, 2013

[KCNQ1, KCNH2, KCNE1 and KCNE2 potassium channels gene variants in sudden manhood death syndrome].

Zhao QH et al.

Fa Yi Xue Za Zhi, 2012

Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

Chen LY et al.

Heart Asia, 2010

Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.

Zhang Y et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2008

Mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes in a long QT syndrome family.

Koo SH et al.

Annals of the Academy of Medicine, Singapore, 2007

Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.

Koo SH et al.

British Journal of Clinical Pharmacology, 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

Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.

Iwasa H et al.

Journal of Human Genetics, 2000

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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."