Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1D
Variant:p.L655P
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CACNA1D

NM_001128840.3:p.L655P

Associated Papers

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

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

Genetic Causes of Functional Adrenocortical Adenomas.

Zennaro MC et al.

Endocrine Reviews, 2017

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

Expression of inflammation-related genes in aldosterone-producing adenomas with KCNJ5 mutation.

Murakami M et al.

Biochemical and Biophysical Research Communications, 2016

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."