Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.P104A
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VCP

NM_007126.5:p.P104A

Associated Papers

The denitrosylase SCoR2 controls cardioprotective metabolic reprogramming.

Grimmett ZW et al.

Elife, 2025

The denitrosylase SCoR2 controls cardioprotective metabolic reprogramming.

Grimmett ZW et al.

Biorxiv : the Preprint Server for Biology, 2025

The erlin1/erlin2 complex binds to and stabilizes phosphatidylinositol 3-phosphate and regulates autophagy.

Hua F et al.

Biochemical and Biophysical Research Communications, 2024

An enzyme that selectively S-nitrosylates proteins to regulate insulin signaling.

Zhou HL et al.

Cell, 2023

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Mah-Som AY et al.

American Journal of Human Genetics, 2023

Binding of the erlin1/2 complex to the third intralumenal loop of IP3R1 triggers its ubiquitin-proteasomal degradation.

Gao X et al.

The Journal of Biological Chemistry, 2022

VCP suppresses proteopathic seeding in neurons.

Zhu J et al.

Molecular Neurodegeneration, 2022

35414105 (PubMed )
Supplement: 13024_2022_532_MOESM3_ESM.xlsx › Sheet1

VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle.

Arhzaouy K et al.

Autophagy, 2019

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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."