Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G219E
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KCNQ1

NM_000218.3:p.G219E

Associated Papers

Cancer-associated loss-of-function mutations in KCNQ1 enhance Wnt/β-catenin signalling disrupting epithelial homeostasis.

Berenguier C et al.

Oncogene, 2025

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

Induced Pluripotent Stem Cells in Congenital Long QT Syndrome: Research Progress and Clinical Applications.

Li Q et al.

Reviews in Cardiovascular Medicine, 2025

iPSC-Derived Cardiomyocytes as a Disease Model to Understand the Biology of Congenital Heart Defects.

Pushpan CK et al.

Cells, 2024

In Vitro Drug Screening Using iPSC-Derived Cardiomyocytes of a Long QT-Syndrome Patient Carrying KCNQ1 & TRPM4 Dual Mutation: An Experimental Personalized Treatment.

Wang F et al.

Cells, 2022

KCNQ1 G219E and TRPM4 T160M polymorphisms are involved in the pathogenesis of long QT syndrome: A case report.

Zhao Y et al.

Medicine, 2021

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_8.
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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."