Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.R301C
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KCNJ11

NM_000525.4:p.R301C

Associated Papers

Opening closed inward rectifier potassium channel doors.

Stary-Weinzinger A et al.

British Journal of Pharmacology, 2026

Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.

Ba T et al.

Clinical Endocrinology, 2024

KATP channel mutations in congenital hyperinsulinism: Progress and challenges towards mechanism-based therapies.

ElSheikh A et al.

Frontiers in Endocrinology, 2023

CL-705G: a novel chemical Kir6.2-specific KATP channel opener.

Gando I et al.

Frontiers in Pharmacology, 2023

Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivating KCNJ11 gene mutation: a case report and literature review.

Liu Z et al.

Frontiers in Endocrinology, 2023

REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.

Hopkins JJ et al.

Human Mutation, 2023

40225155 (PubMed )
Supplement: 8857940.f1.pdf

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

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

A Kir6.2 pore mutation causes inactivation of ATP-sensitive potassium channels by disrupting PIP2-dependent gating.

Bushman JD et al.

Plos One, 2013

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

Bellanné-Chantelot C et al.

Journal of Medical Genetics, 2010

Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.

Lin YW et al.

The Journal of Biological Chemistry, 2008

Regulation of the ATP-sensitive K channel Kir6.2 by ATP and PIP(2).

Ribalet B et al.

Journal of Molecular and Cellular Cardiology, 2005

Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.

Ribalet B et al.

Biophysical Journal, 2003

Regulation of cloned ATP-sensitive K channels by adenine nucleotides and sulfonylureas: interactions between SUR1 and positively charged domains on Kir6.2.

John SA et al.

The Journal of General Physiology, 2001

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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."