Varaico: Literature-Extracted Genetic Variants

Gene:FICD
Variant:p.R374H
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FICD

NM_007076.3:p.R374H

Associated Papers

Inhibition of FicD-mediated AMPylation and deAMPylation by Isoprenoid Diphosphates.

Blevins AM et al.

Biorxiv : the Preprint Server for Biology, 2025

FIC Domain Protein Adenylyltransferase (FICD)-Related Complex Hereditary Spastic Paraplegia with Diabetes Mellitus.

Rebelo AP et al.

Movement Disorders Clinical Practice, 2025

Loss of FIC-1-mediated AMPylation activates the UPRER and upregulates cytosolic HSP70 chaperones to suppress polyglutamine toxicity.

Van Pelt KM et al.

Plos Genetics, 2025

Small-Molecule FICD Inhibitors Suppress Endogenous and Pathologic FICD-Mediated Protein AMPylation.

Chatterjee BK et al.

Acs Chemical Biology, 2025

Exploring the Role of FICD, a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders.

Vinci M et al.

Genes, 2024

Small molecule FICD inhibitors suppress endogenous and pathologic FICD-mediated protein AMPylation.

Chatterjee BK et al.

Biorxiv : the Preprint Server for Biology, 2024

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

Perera LA et al.

Embo Molecular Medicine, 2023

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.

Rebelo AP et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

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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."