Varaico: Literature-Extracted Genetic Variants

Gene:LIG1
Variant:p.P529L
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LIG1

NM_000234.3:p.P529L

Associated Papers

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

Computational studies on the functional and structural impact of pathogenic mutations in enzymes.

Dissanayake UC et al.

Protein Science : a Publication of the Protein Society, 2025

Mechanistic Basis for a Single Amino Acid Residue Mutation Causing Human DNA Ligase 1 Deficiency, A Rare Pediatric Disease.

Zalenski N et al.

Journal of Molecular Biology, 2024

Mutagenic ligation of polβ mismatch insertion products during 8-oxoG bypass by LIG1 and LIG3α at the downstream steps of base excision repair pathway.

Lee KM 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

Uncovering nick DNA binding by LIG1 at the single-molecule level.

Chatterjee S et al.

Biorxiv : the Preprint Server for Biology, 2024

Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency.

Silva JMF et al.

Journal of Clinical Immunology, 2021

DNA ligase I variants fail in the ligation of mutagenic repair intermediates with mismatches and oxidative DNA damage.

Tang Q et al.

Mutagenesis, 2020

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.

Maffucci P et al.

The Journal of Clinical Investigation, 2018

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

Impact of DNA Ligase 1 Genotypes on Childhood Acute Lymphocytic Leukemia.

Hsu PC et al.

In Vivo (athens, Greece), 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."