Varaico: Literature-Extracted Genetic Variants

Gene:SPRTN
Variant:p.Y117C
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SPRTN

NM_032018.7:p.Y117C

Associated Papers

Geographic and age variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Nature, 2025

40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_55

Geographic and age-related variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40034755 (PubMed )
Supplement: media-5.xlsx › Supplementary_Note_Table_28

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

Perry M et al.

Frontiers in Molecular Biosciences, 2022

Mutations Involved in Premature-Ageing Syndromes.

Coppedè F

The Application of Clinical Genetics, 2021

SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication.

Halder S et al.

Nature Communications, 2019

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

Li F et al.

Cell Reports, 2019

SPRTN is a mammalian DNA-binding metalloprotease that resolves DNA-protein crosslinks.

Lopez-Mosqueda J et al.

Elife, 2016

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

Stingele J et al.

Molecular Cell, 2016

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair.

Vaz B et al.

Molecular Cell, 2016

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

Lessel D et al.

Nature Genetics, 2014

USP11 mediates repair of DNA-protein cross-links by deubiquitinating SPRTN metalloprotease.

Perry M et al.

The Journal of Biological Chemistry, 0

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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."