Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.G343_Y348del6
Back to variants list

HSD11B2

NM_000196.4:p.G343_Y348del6

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

Diagnosing apparent mineralocorticoid excess in a child with hypertension and nephrocalcinosis: from symptoms to genetics.

Vallabhaneni P et al.

Cen Case Reports, 2025

Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension.

Pratamawati TM et al.

International Journal of Hypertension, 2023

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."