Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.Y68D
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KCNJ2

NM_000891.3:p.Y68D

Associated Papers

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

Beverley KM et al.

American Journal of Physiology. Cell Physiology, 2022

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.

Krych M et al.

Journal of Cardiology, 2017

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

Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles.

Tan SV et al.

Muscle & Nerve, 2012

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

Tan SV et al.

Annals of Neurology, 2011

Inwardly rectifying potassium channels: their structure, function, and physiological roles.

Hibino H et al.

Physiological Reviews, 2010

Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.

Decher N et al.

Cardiovascular Research, 2007

[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."