Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1D
Variant:p.G403R
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CACNA1D

NM_001128840.3:p.G403R

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

Evolutionary Characteristics in Primary Aldosteronism Patients.

Gao Y et al.

Hypertension (dallas, Tex. : 1979), 2025

The adrenal gland and primary aldosteronism: anatomy, steroidogenesis, regulation, and genetic insights.

Long KC et al.

Frontiers in Endocrinology, 2025

Somatic GNAQ, CTNNB1, and CACNA1C Mutations in Cat Aldosterone-Secreting Tumors.

Watson A et al.

Hypertension (dallas, Tex. : 1979), 2024

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

Caroccia B et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.

Tang X et al.

European Journal of Human Genetics : Ejhg, 2024

38553610 (PubMed )
Supplement: 41431_2024_1594_MOESM10_ESM.xlsx › rank2023

Primary aldosteronism: molecular medicine meets public health.

Azizan EAB et al.

Nature Reviews. Nephrology, 2023

Mutational landscape of cancer-driver genes across human cancers.

Sinkala M

Scientific Reports, 2023

37550388 (PubMed )
Supplement: 41598_2023_39608_MOESM6_ESM.xlsx › Sheet1

Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.

Wu X et al.

Nature Genetics, 2023

37291193 (PubMed )
Supplement: 41588_2023_1403_MOESM1_ESM.pdf

Pathophysiology of Cav1.3 L-type calcium channels in the heart.

Zaveri S et al.

Frontiers in Physiology, 2023

Pathophysiology of bilateral hyperaldosteronism.

Nanba K et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2022

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S11.xls › Sheet1

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Characteristics of a Novel ATP2B3 K416_F418delinsN Mutation in a Classical Aldosterone-Producing Adenoma.

Liao HW et al.

Cancers, 2021

34572956 (PubMed )
Supplement: cancers-13-04729-s001.zip › cancers-1371352-supplementary.pdf

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

Somatic mutations in adrenals from patients with primary aldosteronism not cured after adrenalectomy suggest common pathogenic mechanisms between unilateral and bilateral disease.

Hacini I et al.

European Journal of Endocrinology, 2021

Molecular Mechanisms of Functional Adrenocortical Adenoma and Carcinoma: Genetic Characterization and Intracellular Signaling Pathway.

Shimada H et al.

Biomedicines, 2021

Update on Genetics of Primary Aldosteronism.

Itcho K et al.

Biomedicines, 2021

Unravelling the Genetic Basis of Primary Aldosteronism.

Mourtzi N et al.

Nutrients, 2021

Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.

Striessnig J

Frontiers in Synaptic Neuroscience, 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

Prevalence of Somatic Mutations in Aldosterone-Producing Adenomas in Japanese Patients.

Nanba K et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome.

Vaduva P et al.

Journal of the Endocrine Society, 2020

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

De Sousa K et al.

Hypertension (dallas, Tex. : 1979), 2020

Genetic causes of primary aldosteronism.

Seidel E et al.

Experimental & Molecular Medicine, 2019

Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks.

Nanba K et al.

Hypertension (dallas, Tex. : 1979), 2019

Proteomic Landscape of Aldosterone-Producing Adenoma.

Swierczynska MM et al.

Hypertension (dallas, Tex. : 1979), 2019

30580688 (PubMed )
Supplement: hyp_hype201811733_supp1.pdf

[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

Cellular and Genetic Causes of Idiopathic Hyperaldosteronism.

Omata K et al.

Hypertension (dallas, Tex. : 1979), 2018

Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels.

Pinggera A et al.

Channels (austin, Tex.), 2018

Genetic Causes of Functional Adrenocortical Adenomas.

Zennaro MC et al.

Endocrine Reviews, 2017

Aldosterone-Producing Cell Clusters Frequently Harbor Somatic Mutations and Accumulate With Age in Normal Adrenals.

Omata K et al.

Journal of the Endocrine Society, 2017

Somatic and inherited mutations in primary aldosteronism.

Fernandes-Rosa FL et al.

Journal of Molecular Endocrinology, 2017

Genetic and Histopathologic Intertumor Heterogeneity in Primary Aldosteronism.

Omata K et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Histopathological Classification of Cross-Sectional Image-Negative Hyperaldosteronism.

Yamazaki Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Expression of CYP11B2 in Aldosterone-Producing Adrenocortical Adenoma: Regulatory Mechanisms and Clinical Significance.

Nakamura Y et al.

The Tohoku Journal of Experimental Medicine, 2016

Cav 1.3 (CACNA1D) L-type Ca2+ channel dysfunction in CNS disorders.

Pinggera A et al.

The Journal of Physiology, 2016

Genetics of primary hyperaldosteronism.

Dutta RK et al.

Endocrine-related Cancer, 2016

Regulation of aldosterone secretion by Cav1.3.

Xie CB et al.

Scientific Reports, 2016

Clinical and Steroidogenic Characteristics of Aldosterone-Producing Adenomas With ATPase or CACNA1D Gene Mutations.

Kitamoto T et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype.

Scholl UI et al.

Clinical Endocrinology, 2015

An Update on Familial Hyperaldosteronism.

Korah HE et al.

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

Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma.

Fernandes-Rosa FL et al.

Hypertension (dallas, Tex. : 1979), 2015

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

Wang B et al.

Medicine, 2015

[Genetic alterations in primary aldosteronism].

Zennaro MC et al.

Medecine Sciences : M/s, 2015

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

Zheng FF et al.

Hypertension (dallas, Tex. : 1979), 2015

An update on novel mechanisms of primary aldosteronism.

Zennaro MC et al.

The Journal of Endocrinology, 2015

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

Monticone S et al.

Molecular and Cellular Endocrinology, 2015

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

Fernandes-Rosa FL et al.

Hypertension (dallas, Tex. : 1979), 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."