Varaico: Literature-Extracted Genetic Variants

Gene:PRKDC
Variant:p.L870H
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PRKDC

NM_006904.7:p.L870H

Associated Papers

Phosphorylation of DNA-PKcs at the S2056 cluster ensures efficient and productive lymphocyte development in XLF-deficient mice.

Zhu Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

The recent advances in non-homologous end-joining through the lens of lymphocyte development.

Wang XS et al.

Dna Repair, 2020

ATM, ATR and DNA-PKcs kinases-the lessons from the mouse models: inhibition ≠ deletion.

Menolfi D et al.

Cell & Bioscience, 2020

Spontaneous tumor development in bone marrow-rescued DNA-PKcs(3A/3A) mice due to dysfunction of telomere leading strand deprotection.

Zhang S et al.

Oncogene, 2016

Effects of targeted phosphorylation site mutations in the DNA-PKcs phosphorylation domain on low and high LET radiation sensitivity.

Cartwright IM et al.

Oncology Letters, 2015

Differential radiosensitivity phenotypes of DNA-PKcs mutations affecting NHEJ and HRR systems following irradiation with gamma-rays or very low fluences of alpha particles.

Lin YF et al.

Plos One, 2014

DNA-dependent protein kinase regulates DNA end resection in concert with Mre11-Rad50-Nbs1 (MRN) and ataxia telangiectasia-mutated (ATM).

Zhou Y et al.

The Journal of Biological Chemistry, 2013

Threonine 2609 phosphorylation of the DNA-dependent protein kinase is a critical prerequisite for epidermal growth factor receptor-mediated radiation resistance.

Javvadi P et al.

Molecular Cancer Research : Mcr, 2012

Telomere dysfunction and DNA-PKcs deficiency: characterization and consequence.

Williams ES et al.

Cancer Research, 2009

Ataxia telangiectasia mutated (ATM) is essential for DNA-PKcs phosphorylations at the Thr-2609 cluster upon DNA double strand break.

Chen BP et al.

The Journal of Biological Chemistry, 2007

Autophosphorylation-dependent remodeling of the DNA-dependent protein kinase catalytic subunit regulates ligation of DNA ends.

Block WD et al.

Nucleic Acids Research, 2004

Autophosphorylation of the DNA-dependent protein kinase catalytic subunit is required for rejoining of DNA double-strand breaks.

Chan DW et al.

Genes & Development, 2002

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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."