Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.L217P
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KCNJ2

NM_000891.3:p.L217P

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

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

Tan SV et al.

Annals of Neurology, 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

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

Genetic neurological channelopathies.

Hanna MG

Nature Clinical Practice. Neurology, 2006

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

Davies NP et al.

Neurology, 2005

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."