Varaico: Literature-Extracted Genetic Variants

Gene:PRKDC
Variant:p.A3574V
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PRKDC

NM_006904.7:p.A3574V

Associated Papers

Structural analysis of the basal state of the Artemis:DNA-PKcs complex.

Watanabe G et al.

Nucleic Acids Research, 2022

Uncovering DNA-PKcs ancient phylogeny, unique sequence motifs and insights for human disease.

Lees-Miller JP et al.

Progress in Biophysics and Molecular Biology, 2021

DNA-Dependent Protein Kinase Catalytic Subunit: The Sensor for DNA Double-Strand Breaks Structurally and Functionally Related to Ataxia Telangiectasia Mutated.

Matsumoto Y et al.

Genes, 2021

Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature.

Esenboga S et al.

Clinical Immunology (orlando, Fla.), 2018

The catalytic subunit of DNA-dependent protein kinase is required for cellular resistance to oxidative stress independent of DNA double-strand break repair.

Li M et al.

Free Radical Biology & Medicine, 2014

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.

Felgentreff K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

DNA-PKcs is required to maintain stability of Chk1 and Claspin for optimal replication stress response.

Lin YF et al.

Nucleic Acids Research, 2014

PRKDC mutations in a SCID patient with profound neurological abnormalities.

Woodbine L et al.

The Journal of Clinical Investigation, 2013

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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."