Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.S369*
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KCNJ2

NM_000891.3:p.S369*

Associated Papers

The network of cardiac KIR2.1: its function, cellular regulation, electrical signaling, diseases and new drug avenues.

Li E et al.

Naunyn-schmiedeberg's Archives of Pharmacology, 2024

Molecular mechanism of hyperactivation conferred by a truncation of TRPA1.

Bali A et al.

Nature Communications, 2023

Cryo-electron microscopy unveils unique structural features of the human Kir2.1 channel.

Fernandes CAH et al.

Science Advances, 2022

36149965 (PubMed )
Supplement: sciadv.abq8489_sm.pdf

Inward rectifier potassium (Kir) channels in the retina: living our vision.

Beverley KM et al.

American Journal of Physiology. Cell Physiology, 2022

Inwardly Rectifying Potassium Channel Kir2.1 and its "Kir-ious" Regulation by Protein Trafficking and Roles in Development and Disease.

Hager NA et al.

Frontiers in Cell and Developmental Biology, 2021

Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.

Krych M et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2019

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.

Limberg MM et al.

Basic Research in Cardiology, 2013

Phenotype variability in patients carrying KCNJ2 mutations.

Kimura H et al.

Circulation. Cardiovascular Genetics, 2012

Phenotypic manifestations of mutations in genes encoding subunits of cardiac potassium channels.

Shimizu W et al.

Circulation Research, 2011

A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.

Doi T et al.

Circulation. Cardiovascular Genetics, 2011

[Andersen-Tawil syndrome: a review of its clinical and genetic diagnosis with emphasis on cardiac manifestations].

Márquez MF et al.

Archivos De Cardiologia De Mexico, 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."