Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.M307I
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KCNJ2

NM_000891.3:p.M307I

Associated Papers

Opening closed inward rectifier potassium channel doors.

Stary-Weinzinger A et al.

British Journal of Pharmacology, 2026

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

Andersen-Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1.

Handklo-Jamal R et al.

Frontiers in Pharmacology, 2020

Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.

Fukumura S et al.

Journal of the Neurological Sciences, 2019

Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience.

Alrashed NA et al.

International Journal of Pediatrics & Adolescent Medicine, 2019

Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome.

Song J et al.

Muscle & Nerve, 2016

Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation.

Liu XL et al.

Journal of the Neurological Sciences, 2015

Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

Choi BO et al.

Journal of Human Genetics, 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."