Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.R315W
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ARMC5

NM_001105247.2:p.R315W

Associated Papers

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

Qu Y et al.

Frontiers of Medicine, 2025

ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family case report.

Wang Y et al.

Bmc Medical Genomics, 2025

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

Bouys L et al.

Orphanet Journal of Rare Diseases, 2025

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.

Luo H et al.

Genome Biology, 2024

Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease.

Cavalcante IP et al.

Nature Reviews. Endocrinology, 2022

ARMC5-CUL3 E3 ligase targets full-length SREBF in adrenocortical tumors.

Okuno Y et al.

Jci Insight, 2022

Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia.

Zhang Q et al.

Endocrine Journal, 2018

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 in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.

Espiard S et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.

Gagliardi L et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

Assié G et al.

The New England Journal of Medicine, 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."