Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.R362W
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ARMC5

NM_001105247.2:p.R362W

Associated Papers

Clinical heterogeneity and imaging-driven genetic screening priorities in patients with radiologically suspected primary bilateral macronodular adrenal hyperplasia.

Xu H et al.

Endocrine Connections, 2025

A Global Approach to the Long-Term Follow-up of 17 Families with Bilateral Macronodular Adrenal Disease.

Charchar HLS et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Advancements in the research of the structure, function, and disease-related roles of ARMC5.

Qu Y et al.

Frontiers of Medicine, 2025

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.

Bouys L et al.

Orphanet Journal of Rare Diseases, 2025

Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5- a case series.

Salame AAM et al.

Journal of Neuro-oncology, 2024

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.

Tang P et al.

Bmc Endocrine Disorders, 2023

A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia.

He WT et al.

Bmc Medical Genomics, 2021

Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report.

Jojima T et al.

European Journal of Endocrinology, 2020

Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules.

Mariani BMP et al.

Frontiers in Endocrinology, 2020

A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype.

Albiger NM et al.

Endocrine, 2017

Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma.

Elbelt U et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."