Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.E303K
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KCNJ2

NM_000891.3:p.E303K

Associated Papers

Opening closed inward rectifier potassium channel doors.

Stary-Weinzinger A et al.

British Journal of Pharmacology, 2026

Development of new Kir2.1 channel openers from propafenone analogues.

Li E et al.

British Journal of Pharmacology, 2025

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

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

Three pairs of weak interactions precisely regulate the G-loop gate of Kir2.1 channel.

Li J et al.

Proteins, 2016

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

Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.

Seebohm G et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012

Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.

Barajas-Martinez H et al.

Circulation. Cardiovascular Genetics, 2011

Kir 2.1 channelopathies: the Andersen-Tawil syndrome.

Tristani-Firouzi M et al.

Pflugers Archiv : European Journal of Physiology, 2010

The genetic basis of long QT and short QT syndromes: a mutation update.

Hedley PL et al.

Human Mutation, 2009

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

Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

Bendahhou S et al.

Human Molecular Genetics, 2007

KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.

Eckhardt LL et al.

Heart Rhythm, 2007

Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1.

Pegan S et al.

Biochemistry, 2006

In vivo and in vitro functional characterization of Andersen's syndrome mutations.

Bendahhou S et al.

The Journal of Physiology, 2005

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.

Zhang L et al.

Circulation, 2005

Short QT syndrome or Andersen syndrome: Yin and Yang of Kir2.1 channel dysfunction.

Schulze-Bahr E

Circulation Research, 2005

KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome.

Takahashi T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2005

Cytoplasmic domain structures of Kir2.1 and Kir3.1 show sites for modulating gating and rectification.

Pegan S et al.

Nature Neuroscience, 2005

Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.

Bendahhou S et al.

The Journal of Biological Chemistry, 2003

Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.

Lange PS et al.

Cardiovascular Research, 2003

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

Donaldson MR et al.

Neurology, 2003

A role for the middle C terminus of G-protein-activated inward rectifier potassium channels in regulating gating.

Guo Y et al.

The Journal of Biological Chemistry, 2002

Ser165 in the second transmembrane region of the Kir2.1 channel determines its susceptibility to blockade by intracellular Mg2+.

Fujiwara Y et al.

The Journal of General Physiology, 2002

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

Tristani-Firouzi M et al.

The Journal of Clinical Investigation, 2002

Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.

Lopes CM et al.

Neuron, 2002

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

Plaster NM et al.

Cell, 2001

The Kir channel immunoglobulin domain is essential for Kir1.1 (ROMK) thermodynamic stability, trafficking and gating.

Fallen K et al.

Channels (austin, Tex.), 0

[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."