Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.R219Q
Back to variants list

PC

NM_001040716.2:p.R219Q

Associated Papers

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Čechová A et al.

Journal of Inherited Metabolic Disease, 2020

Remodeling of the interdomain allosteric linker upon membrane binding of CCTα pulls its active site close to the membrane surface.

Knowles DG et al.

The Journal of Biological Chemistry, 2019

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."