Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ4
Variant:p.R220Q
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KCNJ4

NM_152868.3:p.R220Q

Associated Papers

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_Gnomad_0325322.xlsx › Sheet1

Propafenone blocks human cardiac Kir2.x channels by decreasing the negative electrostatic charge in the cytoplasmic pore.

Amorós I et al.

Biochemical Pharmacology, 2013

Identification of a C-terminus domain critical for the sensitivity of Kir2.1 to cholesterol.

Epshtein Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

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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."