Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.H201Y
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ERCC2

NM_000400.4:p.H201Y

Associated Papers

Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent.

Arnon J et al.

Familial Cancer, 2024

38743206 (PubMed )
Supplement: 10689_2024_391_MOESM1_ESM.docx

Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome.

Dos Santos W et al.

Cancers, 2022

36077770 (PubMed )
Supplement: cancers-14-04233-s001.zip › cancers-1703647-Supplementary_Table_S3.xlsx › Supp.Table_S3

Identification of Damaging nsSNVs in HumanERCC2 Gene.

Fang S et al.

Chemical Biology & Drug Design, 2016

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

PhosSNP for systematic analysis of genetic polymorphisms that influence protein phosphorylation.

Ren J et al.

Molecular & Cellular Proteomics : Mcp, 2010

Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.

Hashimoto S et al.

Human Molecular Genetics, 2009

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 › TypeI_

ERCC2 2251A>C genetic polymorphism was highly correlated with early relapse in high-risk stage II and stage III colorectal cancer patients: a preliminary study.

Huang MY et al.

Bmc Cancer, 2008

Common XPD (ERCC2) polymorphisms have no measurable effect on nucleotide excision repair and basal transcription.

Lainé JP et al.

Dna Repair, 2007

A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but not the variant allele of Asp312Asn is associated with risk of lung cancer in a northeastern Chinese population.

Yin J et al.

Cancer Genetics and Cytogenetics, 2007

Polymorphisms in the DNA repair genes XPC, XPD, and XPG and risk of cutaneous melanoma: a case-control analysis.

Li C et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006

The role of ERCC2 polymorphisms in breast cancer risk.

Silva SN et al.

Cancer Genetics and Cytogenetics, 2006

XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review.

Manuguerra M et al.

American Journal of Epidemiology, 2006

Polymorphism of the DNA repair gene ERCC2 Lys751Gln and risk of lung cancer in a northeastern Chinese population.

Yin J et al.

Cancer Genetics and Cytogenetics, 2006

Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.

Savas S et al.

Bmc Cancer, 2005

Nucleotide-excision repair and prostate cancer risk.

Lockett KL et al.

Cancer Letters, 2005

Nucleotide excision repair as a marker for susceptibility to tobacco-related cancers: a review of molecular epidemiological studies.

Neumann AS et al.

Molecular Carcinogenesis, 2005

Genetic polymorphisms in DNA repair genes and risk of lung cancer.

Butkiewicz D et al.

Carcinogenesis, 2001

Associations between ERCC2 polymorphisms and gliomas.

Caggana M et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 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."