Varaico: Literature-Extracted Genetic Variants

Gene:FICD
Variant:p.K124E
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FICD

NM_007076.3:p.K124E

Associated Papers

Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP.

Perera LA et al.

Embo Molecular Medicine, 2023

Structures of a deAMPylation complex rationalise the switch between antagonistic catalytic activities of FICD.

Perera LA et al.

Nature Communications, 2021

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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."