Varaico: Literature-Extracted Genetic Variants

Gene:LIG1
Variant:p.E592A
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LIG1

NM_000234.3:p.E592A

Associated Papers

Processing of DNA single-strand breaks with oxidatively damaged ends by LIG1.

Balu KE et al.

Nucleic Acids Research, 2025

Impaired nick recognition and ligation efficiency by LIG1 K845N variant linked to Huntington's disease.

Ratcliffe J et al.

Nar Molecular Medicine, 2025

Single-molecule analysis of gap and nick binding by LIG1 and LIG3α at the final step of DNA repair.

Chatterjee S et al.

Biorxiv : the Preprint Server for Biology, 2025

Biochemical, structural, and single-molecule characterization of LIG1 active site mutants demonstrate role of F635 and F872 residues for faithful ligation.

Kalaycioğlu M et al.

Biorxiv : the Preprint Server for Biology, 2024

Structures of LIG1 uncover the mechanism of sugar discrimination against 5'-RNA-DNA junctions during ribonucleotide excision repair.

Balu KE et al.

The Journal of Biological Chemistry, 2024

Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.

Alajlan H et al.

Journal of Clinical Immunology, 2024

Structural and biochemical characterization of LIG1 during mutagenic nick sealing of oxidatively damaged ends at the final step of DNA repair.

Balu KE et al.

Biorxiv : the Preprint Server for Biology, 2024

Structures of LIG1 provide a mechanistic basis for understanding a lack of sugar discrimination against a ribonucleotide at the 3'-end of nick DNA.

Balu KE et al.

The Journal of Biological Chemistry, 2024

Structures of LIG1 active site mutants reveal the importance of DNA end rigidity for mismatch discrimination.

Gulkis M et al.

Research Square, 2023

Structures of LIG1 active site mutants reveal the importance of DNA end rigidity for mismatch discrimination.

Gulkis M et al.

Biorxiv : the Preprint Server for Biology, 2023

Structures of LIG1 that engage with mutagenic mismatches inserted by polβ in base excision repair.

Tang Q et al.

Nature Communications, 2022

LIG1 syndrome mutations remodel a cooperative network of ligand binding interactions to compromise ligation efficiency.

Jurkiw TJ et al.

Nucleic Acids Research, 2021

High-fidelity DNA ligation enforces accurate Okazaki fragment maturation during DNA replication.

Williams JS et al.

Nature Communications, 2021

DNA ligase I fidelity mediates the mutagenic ligation of pol β oxidized and mismatch nucleotide insertion products in base excision repair.

Kamble P 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."