Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.P617L
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SCNN1B

NM_000336.3:p.P617L

Associated Papers

Ion channel inhibition by targeted recruitment of NEDD4-2 with divalent nanobodies.

Darko-Boateng A et al.

Nature Communications, 2025

41353348 (PubMed )
Supplement: 41467_2025_67068_MOESM6_ESM.xlsx › Figure_7

Liddle syndrome with a SCNN1B mutation: a case report and systematic review.

Tang Q et al.

Bmc Nephrology, 2025

A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.

Lu Y et al.

Molecular Medicine Reports, 2024

38099339 (PubMed )
Supplement: Supplementary_Data.pdf

Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension.

Fan P et al.

American Journal of Hypertension, 2020

32161960 (PubMed )
Supplement: hpaa037_suppl_supplementary_table_s2.doc

Premature Stroke Secondary to Severe Hypertension Results from Liddle Syndrome Caused by a Novel SCNN1B Mutation.

Fan P et al.

Kidney & Blood Pressure Research, 2020

Liddle Syndrome: Review of the Literature and Description of a New Case.

Tetti M et al.

International Journal of Molecular Sciences, 2018

Associations of epithelial sodium channel genes with blood pressure changes and hypertension incidence: the GenSalt study.

Yang X et al.

American Journal of Hypertension, 2014

A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy.

Caretto A et al.

Case Reports in Obstetrics and Gynecology, 2014

A clinical phenotype mimicking essential hypertension in a newly discovered family with Liddle's syndrome.

Rossi E et al.

American Journal of Hypertension, 2011

Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit.

Rossi E et al.

Journal of Hypertension, 2008

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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."