Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B3
Variant:p.V424_V426del0
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ATP2B3

NM_001001344.3:p.V424_V426del0

Associated Papers

Somatic drivers in aldosterone-producing adenomas and nodules: Insights from a Brazilian cohort of primary aldosteronism.

Guimaraes AG et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

Double CYP11B1/CYP11B2 Immunohistochemistry and Detection of KCNJ5 Mutations in Primary Aldosteronism.

Caroccia B et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Single-Center Prospective Cohort Study on the Histopathology, Genotype, and Postsurgical Outcomes of Patients With Primary Aldosteronism.

Meyer LS et al.

Hypertension (dallas, Tex. : 1979), 2021

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

Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma.

De Sousa K et al.

Hypertension (dallas, Tex. : 1979), 2020

A Novel Somatic Deletion Mutation of ATP2B3 in Aldosterone-Producing Adenoma.

Murakami M et al.

Endocrine Pathology, 2015

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

Monticone S et al.

Molecular and Cellular Endocrinology, 2015

Complementary somatic mutations of KCNJ5, ATP1A1, and ATP2B3 in sporadic aldosterone producing adrenal adenomas.

Dutta RK et al.

Endocrine-related Cancer, 2014

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.

Beuschlein F et al.

Nature Genetics, 2013

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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."