Varaico: Literature-Extracted Genetic Variants

Gene:UFSP2
Variant:p.C302S
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UFSP2

NM_018359.5:p.C302S

Associated Papers

MCM5 UFMylation regulates replication origin firing and fork progression.

Li Z et al.

The Embo Journal, 2025

UFL1 triggers replication fork degradation by MRE11 in BRCA1/2-deficient cells.

Tian T et al.

Nature Chemical Biology, 2024

VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.

Wang Z et al.

Autophagy, 2024

The ufmylation cascade controls COPII recruitment, anterograde transport, and sorting of nascent GPCRs at ER.

Xu X et al.

Science Advances, 2024

Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.

Yasin M et al.

Bmc Neurology, 2024

Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco.

Mattern L et al.

Bone Reports, 2023

Dynamic recruitment of UFM1-specific peptidase 2 to the DNA double-strand breaks regulated by WIP1.

Qin B et al.

Genome Instability & Disease, 2022

MRE11 UFMylation promotes ATM activation.

Wang Z et al.

Nucleic Acids Research, 2019

Ribosomal protein RPL26 is the principal target of UFMylation.

Walczak CP et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."