Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.Q564*
Back to variants list

SCNN1B

NM_000336.3:p.Q564*

Associated Papers

Novel frameshift variant in the β subunit of epithelial sodium channels uncovers Liddle syndrome in a young patient with metabolic syndrome: a case report with review of literature.

Li A et al.

Endocrine Journal, 2026

A Novel Frame-Shift Mutation in SCNN1B Identified in a Chinese Family Characterized by Early-Onset Hypertension.

Lu YT et al.

Frontiers in Cardiovascular Medicine, 2022

Liddle syndrome: clinical and genetic profiles.

Cui Y et al.

Journal of Clinical Hypertension (greenwich, Conn.), 2017

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

Ludwig M et al.

Human Genetics, 2005

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."