Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.E293K
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KCNJ2

NM_000891.3:p.E293K

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

Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient.

Déri S et al.

Cardiovascular Research, 2021

Illuminating Kir channel function in Anderson-Tawil syndrome.

Guo S et al.

Cardiovascular Research, 2021

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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."