Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.R1213G
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ERCC6

NM_000124.4:p.R1213G

Associated Papers

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1

Mechanism of Rad26-assisted rescue of stalled RNA polymerase II in transcription-coupled repair.

Yan C et al.

Nature Communications, 2021

A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.

Sinha S et al.

Nature Communications, 2021

34764240 (PubMed )
Supplement: 41467_2021_26788_MOESM14_ESM.zip › Source_Data › Source_Data_Figure_1-6.xlsx › Figure_6F

Current and emerging roles of Cockayne syndrome group B (CSB) protein.

Tiwari V et al.

Nucleic Acids Research, 2021

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Calmels N et al.

Journal of Medical Genetics, 2018

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

A case-control study on association of nucleotide excision repair polymorphisms and its interaction with environment factors with the susceptibility to non-melanoma skin cancer.

Li YL et al.

Oncotarget, 2017

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Lonjou C et al.

Bmc Cancer, 2017

28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Calmels N et al.

Orphanet Journal of Rare Diseases, 2016

27004399 (PubMed )
Supplement: 13023_2016_408_MOESM1_ESM.xlsx › Feuil1

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

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

A community-based study of nucleotide excision repair polymorphisms in relation to the risk of non-melanoma skin cancer.

Wheless L et al.

The Journal of Investigative Dermatology, 2012

Association between single nucleotide polymorphisms (SNPs) and toxicity of advanced non-small-cell lung cancer patients treated with chemotherapy.

Zhang L et al.

Plos One, 2012

Elevated lung cancer risk is associated with deficiencies in cell cycle checkpoints: genotype and phenotype analyses from a case-control study.

Zheng YL et al.

International Journal of Cancer, 2010

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V et al.

Human Mutation, 2010

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.

Cleaver JE et al.

Nature Reviews. Genetics, 2009

Gene-diet interaction on cancer risk in epidemiological studies.

Lee SA

Journal of Preventive Medicine and Public Health = Yebang Uihakhoe Chi, 2009

Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes.

Abbasi R et al.

International Journal of Cancer, 2009

ERCC6/CSB gene polymorphisms and lung cancer risk.

Ma H et al.

Cancer Letters, 2009

Association between common genetic variation in Cockayne syndrome A and B genes and nucleotide excision repair capacity among smokers.

Leng S et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008

Genetic variation in the DNA repair genes is predictive of outcome in lung cancer.

Matakidou A et al.

Human Molecular Genetics, 2007

Genetic variation in the nucleotide excision repair pathway and colorectal cancer risk.

Berndt SI et al.

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

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

Mallery DL et al.

American Journal of Human Genetics, 1998

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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."