Varaico: Literature-Extracted Genetic Variants

Gene:RECQL
Variant:p.M458K
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RECQL

NM_002907.4:p.M458K

Associated Papers

Germline mutational landscape in a large cohort of Indian breast cancer.

Peter J et al.

Bmc Cancer, 2025

41327099 (PubMed )
Supplement: 12885_2025_15360_MOESM3_ESM.xlsx › Sheet1

Discovery of a new hereditary RECQ helicase disorder RECON syndrome positions the replication stress response and genome homeostasis as centrally important processes in aging and age-related disease.

Datta A et al.

Ageing Research Reviews, 2023

RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.

Abu-Libdeh B et al.

The Journal of Clinical Investigation, 2022

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Liu J et al.

Genome Medicine, 2022

35209950 (PubMed )
Supplement: 13073_2022_1027_MOESM22_ESM.xls › Sheet1

RECQ1 Helicase in Genomic Stability and Cancer.

Debnath S et al.

Genes, 2020

The DNA repair helicase RECQ1 has a checkpoint-dependent role in mediating DNA damage responses induced by gemcitabine.

Parvathaneni S et al.

The Journal of Biological Chemistry, 2019

Mutations in RECQL are not associated with breast cancer risk in an Australian population.

Li N et al.

Nature Genetics, 2018

Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer.

Sun J et al.

Plos Genetics, 2015

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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."