Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B2
Variant:p.Q376R
Back to variants list

ATP6V1B2

NM_001693.4:p.Q376R

Associated Papers

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.

Carpentieri G et al.

Hgg Advances, 2024

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."