Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.P616R
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SCNN1B

NM_000336.3:p.P616R

Associated Papers

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

Tang Q et al.

Bmc Nephrology, 2025

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

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

A family with Liddle's syndrome caused by a new c.1721 deletion mutation in the epithelial sodium channel β-subunit.

Ding X et al.

Experimental and Therapeutic Medicine, 2019

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

Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit.

Ciechanowicz A et al.

Pediatric Nephrology (berlin, Germany), 2005

Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.

Furuhashi M et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."