Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.E246K
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KCNJ5

NM_000890.5:p.E246K

Associated Papers

KCNJ5 mutations in familial and non-familial primary aldosteronism.

Al-Salameh A

European Journal of Endocrinology, 2024

Pathophysiology of bilateral hyperaldosteronism.

Nanba K et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2022

A novel small-molecule selective activator of homomeric GIRK4 channels.

Cui M et al.

The Journal of Biological Chemistry, 2022

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_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5).

Shalomov B et al.

The Journal of Physiology, 2022

How do Kir3.4 mutations cause hereditary hyperaldosteronism?

Kubo Y

The Journal of Physiology, 2022

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Progress on Genetic Basis of Primary Aldosteronism.

Karwacka I et al.

Biomedicines, 2021

Familial hyperaldosteronism type III a novel case and review of literature.

Pons Fernández N et al.

Reviews in Endocrine & Metabolic Disorders, 2019

Inherited Forms of Primary Hyperaldosteronism: New Genes, New Phenotypes and Proposition of A New Classification.

Perez-Rivas LG et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2019

GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.

Monticone S et al.

European Journal of Endocrinology, 2018

Familial hyperaldosteronism type III.

Monticone S et al.

Journal of Human Hypertension, 2017

Somatic and inherited mutations in primary aldosteronism.

Fernandes-Rosa FL et al.

Journal of Molecular Endocrinology, 2017

Genetics of primary hyperaldosteronism.

Dutta RK et al.

Endocrine-related Cancer, 2016

[Genetic alterations in primary aldosteronism].

Zennaro MC et al.

Medecine Sciences : M/s, 2015

KCNJ5 mutations are the most frequent genetic alteration in primary aldosteronism.

Williams TA et al.

Hypertension (dallas, Tex. : 1979), 2015

Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.

Monticone S et al.

Molecular and Cellular Endocrinology, 2015

Novel KCNJ5 mutations in sporadic aldosterone-producing adenoma reduce Kir3.4 membrane abundance.

Cheng CJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Update in primary aldosteronism.

Stowasser M

The Journal of Clinical Endocrinology and Metabolism, 2015

A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.

Kuppusamy M et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.

Murthy M et al.

Hypertension (dallas, Tex. : 1979), 2014

Overview of the genetic determinants of primary aldosteronism.

Al-Salameh A et al.

The Application of Clinical Genetics, 2014

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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."