Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.S314A
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KCNJ2

NM_000891.3:p.S314A

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 › welling_comparison.xlsx › Sheet1

Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.

Bendahhou S et al.

The Journal of Biological Chemistry, 2003

Contribution of cytosolic cysteine residues to the gating properties of the Kir2.1 inward rectifier.

Garneau L et al.

Biophysical Journal, 2003

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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."