Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.D78Y
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KCNJ2

NM_000891.3:p.D78Y

Associated Papers

Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights.

Anderson CL et al.

The Journal of Biological Chemistry, 2026

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

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Son MJ et al.

Journal of Korean Medical Science, 2018

Imipramine for incessant ventricular arrhythmias in 2 unrelated patients with Andersen-Tawil syndrome.

Bigelow AM et al.

Heart Rhythm, 2015

Kir 2.1 channelopathies: the Andersen-Tawil syndrome.

Tristani-Firouzi M et al.

Pflugers Archiv : European Journal of Physiology, 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: prospective cohort analysis and expansion of the phenotype.

Yoon G et al.

American Journal of Medical Genetics. Part A, 2006

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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."