Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.I182L
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KCNJ11

NM_000525.4:p.I182L

Associated Papers

Cryo-electron microscopy structures and progress toward a dynamic understanding of KATP channels.

Puljung MC

The Journal of General Physiology, 2018

Parametrisation of the free energy of ATP binding to wild-type and mutant Kir6.2 potassium channels.

Moran O et al.

Biophysical Chemistry, 2013

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Gloyn AL et al.

Human Mutation, 2006

The I182 region of k(ir)6.2 is closely associated with ligand binding in K(ATP) channel inhibition by ATP.

Li L et al.

Biophysical Journal, 2000

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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."