Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6AP2

Variant:p.A286_K287Splc

Back to variants list

ATP6AP2

NM_005765.3:p.A286_K287Splc

hg38:chrX:40605559 A>C

Associated Papers

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.

Hirose T et al.

The Journal of Clinical Investigation, 2019

30985297 (PubMed )

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."