Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.T309K
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KCNJ2

NM_000891.3:p.T309K

Associated Papers

Cryo-electron microscopy unveils unique structural features of the human Kir2.1 channel.

Fernandes CAH et al.

Science Advances, 2022

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

Structural Basis for Differences in Dynamics Induced by Leu Versus Ile Residues in the CD Loop of Kir Channels.

Lü S et al.

Molecular Neurobiology, 2016

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

Pegan S et al.

Biochemistry, 2006

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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."