Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.R50W
Back to variants list

KCNJ11

NM_000525.4:p.R50W

Associated Papers

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes.

Pezzilli S et al.

Acta Diabetologica, 2022

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

Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?

Rozenkova K et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017

ATP sensitivity of ATP-sensitive K+ channels: role of the gamma phosphate group of ATP and the R50 residue of mouse Kir6.2.

John SA et al.

The Journal of Physiology, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."