Varaico: Literature-Extracted Genetic Variants

Gene:SPRTN
Variant:p.E112Q
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SPRTN

NM_032018.7:p.E112Q

Associated Papers

Allosteric activation of the SPRTN protease by ubiquitin maintains genome stability.

Dürauer S et al.

Nature Communications, 2025

Replication-associated formation and repair of human topoisomerase IIIα cleavage complexes.

Saha LK et al.

Nature Communications, 2023

37024461 (PubMed )
Supplement: 41467_2023_37498_MOESM2_ESM.pdf

SPRTN patient variants cause global-genome DNA-protein crosslink repair defects.

Weickert P et al.

Nature Communications, 2023

Mechanisms and Regulation of DNA-Protein Crosslink Repair During DNA Replication by SPRTN Protease.

Perry M et al.

Frontiers in Molecular Biosciences, 2022

Structural Insight into DNA-Dependent Activation of Human Metalloprotease Spartan.

Li F et al.

Cell Reports, 2019

Mechanism and Regulation of DNA-Protein Crosslink Repair by the DNA-Dependent Metalloprotease SPRTN.

Stingele J et al.

Molecular Cell, 2016

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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."