Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.R593W
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ARMC5

NM_001105247.2:p.R593W

Associated Papers

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

SPT5 regulates RNA polymerase II stability via Cullin 3-ARMC5 recognition.

Aoi Y et al.

Science Advances, 2025

Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups.

Violon F et al.

Endocrine Pathology, 2024

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

Tang P et al.

Bmc Endocrine Disorders, 2023

ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.

Lao L et al.

Nucleic Acids Research, 2022

Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.

Bouys L et al.

European Journal of Endocrinology, 2022

[Hereditary Cushing's syndrome caused by primary bilateral macronodular adrenal hyperplasia due to ARMC5 mutation with concomitant primary hyperparathyroidism: the first known case in Russia].

Mamedova EO et al.

Problemy Endokrinologii, 2019

Genetic Testing in Endocrinology.

De Sousa SM et al.

The Clinical Biochemist. Reviews, 2018

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

Do patients with incidentally discovered bilateral adrenal nodules represent an early form of ARMC5-mediated bilateral macronodular hyperplasia?

Emms H et al.

Endocrine, 2016

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?

Drougat L et al.

European Journal of Endocrinology, 2015

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.

Gagliardi L et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.

Faucz FR et al.

The Journal of Clinical Endocrinology and Metabolism, 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."