Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ8
Variant:p.E189K
Back to variants list

KCNJ8

NM_004982.4:p.E189K

Associated Papers

Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells.

Gao J et al.

The Journal of Pharmacology and Experimental Therapeutics, 2023

Kir6.1 and SUR2B in Cantú syndrome.

McClenaghan C et al.

American Journal of Physiology. Cell Physiology, 2022

Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.

Apuril Velgara ES et al.

American Journal of Medical Genetics. Part A, 2022

Corrigendum: A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.

Chihara M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021

A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.

Chihara M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020

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."