Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.R181W
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SCNN1A

NM_001038.6:p.R181W

Associated Papers

Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR.

Pranke I et al.

Frontiers in Pharmacology, 2025

41235117 (PubMed )
Supplement: Supplementaryfile2.pdf

Theratyping cystic fibrosis patients to guide elexacaftor/tezacaftor/ivacaftor out-of-label prescription.

Dreano E et al.

The European Respiratory Journal, 2023

ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.

Seidel P et al.

Jci Insight, 2022

36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › CAKI2

Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.

Hanukoglu I et al.

Gene, 2016

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

Azad AK et al.

Human Mutation, 2009

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

Sheridan MB et al.

Human Molecular Genetics, 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."