Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.E628V
Back to variants list

ATP7A

NM_000052.7:p.E628V

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

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.

Skjørringe T et al.

Scientific Reports, 2017

Structural models of the human copper P-type ATPases ATP7A and ATP7B.

Gourdon P et al.

Biological Chemistry, 2012

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."