Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.V114I
Back to variants list

SCNN1A

NM_001038.6:p.V114I

Associated Papers

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

The epithelial sodium channel (ENaC) as a therapeutic target for cystic fibrosis lung disease.

Moore PJ et al.

Expert Opinion on Therapeutic Targets, 2018

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

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."