Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.I167F
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KCNJ11

NM_000525.4:p.I167F

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

Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.

Garcin L et al.

Pediatric Diabetes, 2020

New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Mutation screening of INS and KCNJ11 genes in Taiwanese children with type 1B diabetic onset before the age of 5 years.

Lo FS

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018

A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.

Chang WL et al.

Diabetes Research and Clinical Practice, 2014

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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."