Varaico: Literature-Extracted Genetic Variants

Gene:TOPBP1
Variant:p.R309C
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TOPBP1

NM_007027.4:p.R309C

Associated Papers

Genomic instability in ovarian cancer: Through the lens of single nucleotide polymorphisms.

Canchi Sistla H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

ATM kinase inhibitor AZD0156 in combination with irinotecan and 5-fluorouracil in preclinical models of colorectal cancer.

Davis SL et al.

Bmc Cancer, 2022

36309653 (PubMed )
Supplement: 12885_2022_10084_MOESM1_ESM.pdf

Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Abbasi Y et al.

Molecular Genetics & Genomic Medicine, 2018

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

The c.*229C > T gene polymorphism in 3'UTR region of the topoisomerase IIβ binding protein 1 gene and LOH in BRCA1/2 regions and their effect on the risk and progression of human laryngeal carcinoma.

Starska K et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2016

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A091-01A.domain

TopBP1: A BRCT-scaffold protein functioning in multiple cellular pathways.

Wardlaw CP et al.

Dna Repair, 2014

Evaluation of the RHINO gene for breast cancer predisposition in Finnish breast cancer families.

Heikkinen T et al.

Breast Cancer Research and Treatment, 2014

TopBP1 mediates mutant p53 gain of function through NF-Y and p63/p73.

Liu K et al.

Molecular and Cellular Biology, 2011

TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study.

Blaut MA et al.

Journal of Negative Results in Biomedicine, 2010

Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer.

Karppinen SM et al.

European Journal of Cancer (oxford, England : 1990), 2006

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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."