Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.I167V
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KCNJ11

NM_000525.4:p.I167V

Associated Papers

Kir6.2 channel activity is regulated by interaction of transmembrane domains 1 and 2 through I167 in the bundle-crossing gate.

Kawashima R et al.

Physiological Reports, 2025

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

De Franco E et al.

Human Mutation, 2020

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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."