Varaico: Literature-Extracted Genetic Variants

Gene:XRCC4
Variant:p.A247S
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XRCC4

NM_003401.5:p.A247S

Associated Papers

Sequence Variation in X-ray Cross Complimenting (XRCC4, XRCC5, XRCC6 and XRCC7) Genes and the Risk of Gastrointestinal Cancer in South-Western Maharashtra: A Hospital Based Case-Control Study.

Patil MN et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2025

Integrative Computational Analysis of Common EXO5 Haplotypes: Impact on Protein Dynamics, Genome Stability, and Cancer Progression.

Mazza F et al.

Journal of Chemical Information and Modeling, 2025

40115981 (PubMed )
Supplement: ci5c00067_si_002.xlsx › scored_ALL_haplotypes_1MAF_cano

Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.

Correa Brito L et al.

Frontiers in Genetics, 2024

38528912 (PubMed )
Supplement: Table1.xlsx › ACMG_Clasification

Feline XRCC4 undergoes rapid Ku-dependent recruitment to DNA damage sites.

Koike M et al.

Febs Open Bio, 2022

Genetic polymorphisms in DNA repair genes and hepatocellular carcinoma risk.

Ghaderi-Zefrehi H et al.

Dna Repair, 2021

Association between Single Nucleotide Polymorphisms and Glioma Risk: A Systematic Literature Review.

Tavares CB et al.

Cancer Investigation, 2020

MiR-509-3 augments the synthetic lethality of PARPi by regulating HR repair in PDX model of HGSOC.

Sun C et al.

Journal of Hematology & Oncology, 2020

32005272 (PubMed )
Supplement: 13045_2020_844_MOESM10_ESM.xlsx › DDR_genes

Exploring the deleterious SNPs in XRCC4 gene using computational approach and studying their association with breast cancer in the population of West India.

Singh PK et al.

Gene, 2018

A recessive variant of XRCC4 predisposes to non- BRCA1/2 breast cancer in chinese women and impairs the DNA damage response via dysregulated nuclear localization.

He M et al.

Oncotarget, 2014

Polymorphisms in DNA repair genes and risk of glioma and meningioma.

Luo KQ et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

[Study on the relationship between single-nucleotide polymorphisms in IL-6, IL-10 genes and HBV-related hepatocellular carcinoma].

Qiu XQ et al.

Zhonghua Liu Xing Bing Xue Za Zhi = Zhonghua Liuxingbingxue Zazhi, 2011

Polymorphisms of DNA repair gene XRCC1 and risk of glioma: a case-control study in Southern China.

Zhou LQ et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2011

Ancient and recent adaptive evolution of primate non-homologous end joining genes.

Demogines A et al.

Plos Genetics, 2010

Genetic polymorphisms in DNA repair genes XPC, XPD, and XRCC4, and susceptibility to Helicobacter pylori infection-related gastric antrum adenocarcinoma in Guangxi population, China.

Long XD et al.

Molecular Carcinogenesis, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

XRCC4 codon 247*A and XRCC4 promoter -1394*T related genotypes but not XRCC4 intron 3 gene polymorphism are associated with higher susceptibility for endometriosis.

Hsieh YY et al.

Molecular Reproduction and Development, 2008

[Association between genetic polymorphisms of DNA repair genes XRCC1, XRCC3 and susceptibility to chronic benzene poisoning].

Huang HL et al.

Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi = Zhonghua Laodong Weisheng Zhiyebing Zazhi = Chinese Journal of Industrial Hygiene and Occupational Diseases, 2007

[Study on polymorphisms in metabolic enzyme genes, DNA repair genes and individual susceptibility to hepatocellular carcinoma].

Ye XP et al.

Wei Sheng Yan Jiu = Journal of Hygiene Research, 2006

Polymorphisms in genes involved in DNA double-strand break repair pathway and susceptibility to benzene-induced hematotoxicity.

Shen M et al.

Carcinogenesis, 2006

Genetic susceptibility to tobacco-related cancer.

Wu X et al.

Oncogene, 2004

An evolutionary perspective on single-nucleotide polymorphism screening in molecular cancer epidemiology.

Zhu Y et al.

Cancer Research, 2004

[Association of single nucleotide polymorphisms in code region of beta2-adrenoceptor gene with hypertension in Chinese population].

Wu H et al.

Zhonghua Nei Ke Za Zhi, 2001

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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."