Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.R80C
Back to variants list

KCNJ2

NM_000891.3:p.R80C

Associated Papers

Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights.

Anderson CL et al.

The Journal of Biological Chemistry, 2026

Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.

Moreno-Manuel AI et al.

Cardiovascular Research, 2023

Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.

Villar-Quiles RN et al.

European Journal of Neurology, 2022

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

Coyote-Maestas W et al.

Elife, 2022

Phenotype variability in patients carrying KCNJ2 mutations.

Kimura H et al.

Circulation. Cardiovascular Genetics, 2012

[Andersen-Tawil syndrome: a review of its clinical and genetic diagnosis with emphasis on cardiac manifestations].

Márquez MF et al.

Archivos De Cardiologia De Mexico, 0

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."