Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.R350Q
Back to variants list

SCNN1A

NM_001038.6:p.R350Q

Associated Papers

Analyses of epithelial Na+ channel variants reveal that an extracellular β-ball domain critically regulates ENaC gating.

Wang X et al.

The Journal of Biological Chemistry, 2019

Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.

Chen CJ et al.

Frontiers in Genetics, 2018

Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations.

Zhang Y et al.

Dna and Cell Biology, 2017

Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.

Juang JM et al.

Scientific Reports, 2014

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."