Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.H497Q
Back to variants list

HPS1

NM_000195.5:p.H497Q

Associated Papers

A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).

Carmona-Rivera C et al.

Biochimica Et Biophysica Acta, 2013

Novel mutations in the HPS1 gene among Puerto Rican patients.

Carmona-Rivera C et al.

Clinical Genetics, 2011

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."