Varaico: Literature-Extracted Genetic Variants

Gene:MDC1
Variant:p.K1840R
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MDC1

NM_014641.3:p.K1840R

Associated Papers

The deSUMOylase SENP2 coordinates homologous recombination and nonhomologous end joining by independent mechanisms.

Garvin AJ et al.

Genes & Development, 2019

Ubiquitin-like modifications in the DNA damage response.

Wang Z et al.

Mutation Research, 2017

Ataxin-3 consolidates the MDC1-dependent DNA double-strand break response by counteracting the SUMO-targeted ubiquitin ligase RNF4.

Pfeiffer A et al.

The Embo Journal, 2017

28275011 (PubMed )
Supplement: EMBJ-36-1066-s001.pdf

Sumoylation of MDC1 is important for proper DNA damage response.

Luo K et al.

The Embo Journal, 2012

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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."