Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.Q1413R
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ERCC6

NM_000124.4:p.Q1413R

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

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

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_

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS6

Genetic variants in the nucleotide excision repair genes are associated with the risk of developing endometriosis.

Shen TC et al.

Biology of Reproduction, 2019

Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.

Santos LS et al.

Genes, 2019

Structural basis of ubiquitin recognition by the winged-helix domain of Cockayne syndrome group B protein.

Takahashi TS et al.

Nucleic Acids Research, 2019

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

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

The role of CCNH Val270Ala (rs2230641) and other nucleotide excision repair polymorphisms in individual susceptibility to well-differentiated thyroid cancer.

Santos LS et al.

Oncology Reports, 2013

Induction of sister chromatid exchange by acrylamide and glycidamide in human lymphocytes: role of polymorphisms in detoxification and DNA-repair genes in the genotoxicity of glycidamide.

Pingarilho M et al.

Mutation Research, 2013

Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis.

Busque L et al.

Nature Genetics, 2012

23001125 (PubMed )
Supplement: NIHMS403965-supplement-1.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

Genetic polymorphisms in detoxification and DNA repair genes and susceptibility to glycidamide-induced DNA damage.

Pingarilho M et al.

Journal of Toxicology and Environmental Health. Part A, 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

Genome-wide identification of chemosensitive single nucleotide polymorphism markers in gastric cancer.

Ha YJ et al.

Anticancer Research, 2011

The joint effect of hOGG1 single nucleotide polymorphism and betel quid chewing on oral cancer in Taiwan.

Tsou YA et al.

Anticancer Research, 2010

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

Significant association of ERCC6 single nucleotide polymorphisms with bladder cancer susceptibility in Taiwan.

Chang CH et al.

Anticancer Research, 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 › TypeII_

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

A novel single nucleotide polymorphism in ERCC6 gene is associated with oral cancer susceptibility in Taiwanese patients.

Chiu CF et al.

Oral Oncology, 2008

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

Matakidou A et al.

Human Molecular Genetics, 2007

Nucleotide excision repair gene polymorphisms and risk of advanced colorectal adenoma: XPC polymorphisms modify smoking-related risk.

Huang WY et al.

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

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity.

Colella S et al.

Human Molecular Genetics, 1999

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

Mallery DL et al.

American Journal of Human Genetics, 1998

Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.

Zhang H et al.

European Journal of Medical Genetics, 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."