Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.R263Q
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DDX11

NM_030653.4:p.R263Q

Associated Papers

The clinical and molecular landscape of breast cancer in women of African and South Asian ancestry.

Thorn GJ et al.

Nature Communications, 2025

40394000 (PubMed )
Supplement: 41467_2025_59144_MOESM4_ESM.xlsx › Supplementary_Data_7

Targeting DDX11 promotes PARP inhibitor sensitivity in hepatocellular carcinoma by attenuating BRCA2-RAD51 mediated homologous recombination.

Cao K et al.

Oncogene, 2024

Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.

Tan IL et al.

Cell Reports, 2023

37917583 (PubMed )
Supplement: NIHMS1948186-supplement-2.xlsx › All-Pat-ClinVar_Coding

[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness].

Arroyo-Carrera I et al.

Revista De Neurologia, 2023

Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.

Bottega R et al.

Journal of Cellular Physiology, 2021

DDX11 loss causes replication stress and pharmacologically exploitable DNA repair defects.

Jegadesan NK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology.

Santos D et al.

International Journal of Molecular Sciences, 2021

High-depth African genomes inform human migration and health.

Choudhury A et al.

Nature, 2020

33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19

Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.

van Schie JJM et al.

Nature Communications, 2020

The iron-sulfur helicase DDX11 promotes the generation of single-stranded DNA for CHK1 activation.

Simon AK et al.

Life Science Alliance, 2020

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

Spotlight on Warsaw Breakage Syndrome.

Pisani FM

The Application of Clinical Genetics, 2019

Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11.

Pisani FM et al.

Genes, 2018

Warsaw breakage syndrome: Further clinical and genetic delineation.

Alkhunaizi E et al.

American Journal of Medical Genetics. Part A, 2018

Hsp90 Is Essential for Chl1-Mediated Chromosome Segregation and Sister Chromatid Cohesion.

Khurana N et al.

Msphere, 2018

Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.

Wachnowsky C et al.

Metallomics : Integrated Biometal Science, 2018

Mutational analysis of FANCJ helicase.

Guo M et al.

Methods (san Diego, Calif.), 2016

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s1.pdf

The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.

Sun X et al.

Human Molecular Genetics, 2015

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings.

Bailey C et al.

European Journal of Medical Genetics, 2015

The Q Motif Is Involved in DNA Binding but Not ATP Binding in ChlR1 Helicase.

Ding H et al.

Plos One, 2015

Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome.

Bharti SK et al.

Cellular and Molecular Life Sciences : Cmls, 2014

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.

Capo-Chichi JM et al.

Human Mutation, 2013

Disease-causing missense mutations in human DNA helicase disorders.

Suhasini AN et al.

Mutation Research, 0

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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."