Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G386V
Back to variants list

ATP7B

NM_000053.4:p.G386V

Associated Papers

The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.

Ariöz C et al.

Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2017

Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.

de Bie P et al.

Gastroenterology, 2007

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."