Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.K331R
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BLM

NM_000057.4:p.K331R

Associated Papers

GNL3 SUMOylation is essential for DNA double-strand break repair by homologous recombination.

Yang Y et al.

Biorxiv : the Preprint Server for Biology, 2025

A CK2 and SUMO-dependent, PML NB-involved regulatory mechanism controlling BLM ubiquitination and G-quadruplex resolution.

Liu S et al.

Nature Communications, 2023

BLM Sumoylation Is Required for Replication Stability and Normal Fork Velocity During DNA Replication.

de Renty C et al.

Frontiers in Molecular Biosciences, 2022

Rescue of collapsed replication forks is dependent on NSMCE2 to prevent mitotic DNA damage.

Pond KW et al.

Plos Genetics, 2019

On BLM helicase in recombination-mediated telomere maintenance.

Rezazadeh S

Molecular Biology Reports, 2013

RecQ helicases; at the crossroad of genome replication, repair, and recombination.

Rezazadeh S

Molecular Biology Reports, 2012

Intra-nuclear trafficking of the BLM helicase to DNA damage-induced foci is regulated by SUMO modification.

Eladad S et al.

Human Molecular Genetics, 2005

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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."