Varaico: Literature-Extracted Genetic Variants

Gene:CCDC50
Variant:p.R274*
Back to variants list

CCDC50

NM_178335.3:p.R274*

Associated Papers

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.

Lachgar-Ruiz M et al.

Disease Models & Mechanisms, 2023

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.

Iwasa YI et al.

Plos One, 2016

Arg-274 and Leu-277 of the gamma-aminobutyric acid type A receptor alpha 2 subunit define agonist efficacy and potency.

O'Shea SM et al.

The Journal of Biological Chemistry, 2000

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."