Varaico: Literature-Extracted Genetic Variants

Gene:XRCC4
Variant:p.R124*
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XRCC4

NM_003401.5:p.R124*

Associated Papers

Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.

Asa ADDC et al.

Journal of Radiation Research, 2021

In cellulo phosphorylation of DNA double-strand break repair protein XRCC4 on Ser260 by DNA-PK.

Amiri Moghani AR et al.

Journal of Radiation Research, 2018

Lysine 271 but not lysine 210 of XRCC4 is required for the nuclear localization of XRCC4 and DNA ligase IV.

Fukuchi M et al.

Biochemical and Biophysical Research Communications, 2015

Asparagine 326 in the extremely C-terminal region of XRCC4 is essential for the cell survival after irradiation.

Wanotayan R et al.

Biochemical and Biophysical Research Communications, 2015

Ionizing radiation-induced XRCC4 phosphorylation is mediated through ATM in addition to DNA-PK.

Imamichi S et al.

Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2014

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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."