Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.W126R
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KCNJ5

NM_000890.5:p.W126R

Associated Papers

Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism.

Chang YY et al.

Frontiers in Endocrinology, 2023

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

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

[Clinical and genetic features of Kallmann syndrome: an analysis of 5 cases].

Chen J et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

Prevalence of Somatic KCNJ5 Mutations in Thai Patients With Aldosterone-Producing Adrenal Adenomas.

Warachit W et al.

Journal of the Endocrine Society, 2018

Genetic Causes of Functional Adrenocortical Adenomas.

Zennaro MC et al.

Endocrine Reviews, 2017

Of channels and pumps: different ways to boost the aldosterone?

Bandulik S

Acta Physiologica (oxford, England), 2017

Genetics of primary hyperaldosteronism.

Dutta RK et al.

Endocrine-related Cancer, 2016

Genetics of Aldosterone-Producing Adenoma in Korean Patients.

Hong AR et al.

Plos One, 2016

KCNJ5 Mutations: Sex, Salt and Selection.

Williams TA et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2015

The molecular basis of primary aldosteronism: from chimeric gene to channelopathy.

Lenzini L et al.

Current Opinion in Pharmacology, 2015

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

Wang B et al.

Medicine, 2015

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

Williams TA et al.

Hypertension (dallas, Tex. : 1979), 2015

Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma.

Zheng FF 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

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

Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.

Fernandes-Rosa FL et al.

Hypertension (dallas, Tex. : 1979), 2014

Pharmacology and pathophysiology of mutated KCNJ5 found in adrenal aldosterone-producing adenomas.

Tauber P et al.

Endocrinology, 2014

Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.

Williams TA 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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