Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.I170V
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ARMC5

NM_001105247.2:p.I170V

Associated Papers

ACE-Dependent Alzheimer's Disease: Blood ACE Phenotyping of the Most Prevalent and Damaging ACE Missense Mutation-Y215C (rs3730025).

Buianova AA et al.

Biomedicines, 2026

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

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

Bouys L et al.

Orphanet Journal of Rare Diseases, 2025

Unravelling the Genetic Basis of Primary Aldosteronism.

Mourtzi N et al.

Nutrients, 2021

ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1).

Damjanovic SS et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

ARMC5 variants in PRKAR1A-mutated patients modify cortisol levels and Cushing's syndrome.

Maria AG et al.

Endocrine-related Cancer, 2020

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

High expression of adrenal P450 aromatase (CYP19A1) in association with ARMC5-primary bilateral macronodular adrenocortical hyperplasia.

Berthon A et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2019

Genetics of primary hyperaldosteronism.

Dutta RK et al.

Endocrine-related Cancer, 2016

ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.

Mulatero P et al.

Journal of Human Hypertension, 2016

Primary Aldosteronism and ARMC5 Variants.

Zilbermint M et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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."