Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.E147Q
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KCNJ5

NM_000890.5:p.E147Q

Associated Papers

Structural determinants of the direct inhibition of GIRK channels by Sigma-1 receptor antagonist.

Liu C et al.

The Journal of Biological Chemistry, 2024

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.

Nanba K et al.

Frontiers in Endocrinology, 2021

Novel Insertion Mutation in KCNJ5 Channel Produces Constitutive Aldosterone Release From H295R Cells.

Hardege I et al.

Molecular Endocrinology (baltimore, Md.), 2015

Prevalence and characterization of somatic mutations in Chinese aldosterone-producing adenoma patients.

Wang B et al.

Medicine, 2015

The selectivity filter may act as the agonist-activated gate in the G protein-activated Kir3.1/Kir3.4 K+ channel.

Claydon TW et al.

The Journal of Biological Chemistry, 2003

Molecular basis of ion selectivity, block, and rectification of the inward rectifier Kir3.1/Kir3.4 K(+) channel.

Dibb KM et al.

The Journal of Biological Chemistry, 2003

The pore helix is involved in stabilizing the open state of inwardly rectifying K+ channels.

Alagem N et al.

Biophysical Journal, 2003

Potassium channel gating in the absence of the highly conserved glycine of the inner transmembrane helix.

Rosenhouse-Dantsker A et al.

Channels (austin, Tex.), 0

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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."