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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCNN1B

Variant:p.R597insFs

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SCNN1B

NM_000336.3:p.R597insFs

hg38:chr16:23380666 C>CCG

Associated Papers

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

Tang Q et al.

Bmc Nephrology, 2025

40696293 (PubMed )

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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."