Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.A372D
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KCNQ1

NM_000218.3:p.A372D

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_S1

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome.

Hammami Bomholtz S et al.

Pacing and Clinical Electrophysiology : Pace, 2020

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

The Crossroad of Ion Channels and Calmodulin in Disease.

Urrutia J et al.

International Journal of Molecular Sciences, 2019

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

Doxorubicin induces caspase-mediated proteolysis of KV7.1.

Strigli A et al.

Communications Biology, 2018

Gene symbol: MLH1.

Kadiyska TK et al.

Human Genetics, 2007

Gene symbol: MUTYH.

Aretz S

Human Genetics, 2007

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

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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."