Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.Y145C
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KCNJ2

NM_000891.3:p.Y145C

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

41308991 (PubMed )
Supplement: mmc2.pdf

Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.

Moreno-Manuel AI et al.

Cardiovascular Research, 2023

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 › figure_output › Fig6.pdf

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.

Le Tanno P et al.

Frontiers in Genetics, 2021

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.

Scheiper S et al.

Bmc Medical Genetics, 2017

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

Burns C et al.

Journal of Arrhythmia, 2016

27920829 (PubMed )
Supplement: mmc2.docx

Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT).

Tully I et al.

International Journal of Cardiology, 2015

Structural basis of inward rectifying potassium channel gating.

Loussouarn G et al.

Trends in Cardiovascular Medicine, 2002

The selectivity filter of a potassium channel, murine kir2.1, investigated using scanning cysteine mutagenesis.

Dart C et al.

The Journal of Physiology, 1998

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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."