Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.R192H
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KCNJ11

NM_000525.4:p.R192H

Associated Papers

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

Ba T et al.

Clinical Endocrinology, 2024

The effects of transcription factor 7-like 2 rs7903146 and paired box 4 rs2233580 variants associated with type 2 diabetes on the therapeutic efficacy of hypoglycemic agents.

Teerawattanapong N et al.

Heliyon, 2024

From the identification of actionable molecular targets to the generation of faithful neuroblastoma patient-derived preclinical models.

Capasso M et al.

Journal of Translational Medicine, 2024

38351008 (PubMed )
Supplement: 12967_2024_4954_MOESM2_ESM.xlsx › Table_S4

MODY in China: two families carrying the KCNJ11 E229K variant.

Xiao B et al.

Acta Diabetologica, 2023

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 novel mutation KCNJ11 R136C caused KCNJ11-MODY.

Chen Y et al.

Diabetology & Metabolic Syndrome, 2021

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

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.

Song J et al.

Bmc Medical Genetics, 2017

Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes.

Liu L et al.

Diabetologia, 2013

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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."