Varaico: Literature-Extracted Genetic Variants

Gene:RECQL
Variant:p.R215Q
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RECQL

NM_002907.4:p.R215Q

Associated Papers

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

Peter J et al.

Bmc Cancer, 2025

Understanding genetic variations associated with familial breast cancer.

Pal M et al.

World Journal of Surgical Oncology, 2024

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

Development of a system combining comprehensive genotyping and organoid cultures for identifying and testing genotype-oriented personalised medicine for pancreatobiliary cancers.

Shiihara M et al.

European Journal of Cancer (oxford, England : 1990), 2021

Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.

Rashid MU et al.

Hereditary Cancer in Clinical Practice, 2020

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

Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer.

Tervasmäki A et al.

International Journal of Cancer, 2018

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

Fu W et al.

Human Mutation, 2017

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."