Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.A221G
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HSD11B2

NM_000196.4:p.A221G

Associated Papers

Population-based estimates of the global prevalence and carrier frequency of apparent mineralocorticoid excess caused by 11β-hydroxysteroid dehydrogenase type 2 deficiency.

Charoenngam N et al.

Orphanet Journal of Rare Diseases, 2025

41316338 (PubMed )
Supplement: 13023_2025_4160_MOESM1_ESM.docx

Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension.

Pratamawati TM et al.

International Journal of Hypertension, 2023

Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.

Lu YT et al.

Journal of Translational Medicine, 2022

Detection of Urinary Exosomal HSD11B2 mRNA Expression: A Useful Novel Tool for the Diagnostic Approach of Dysfunctional 11β-HSD2-Related Hypertension.

De Santis D et al.

Frontiers in Endocrinology, 2021

Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia.

Fan P et al.

Endocrine, 2020

Serum Cortisol and Cortisone as Potential Biomarkers of Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency.

Carvajal CA et al.

American Journal of Hypertension, 2018

Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.

Yau M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation.

Pizzolo F 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."