Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.R492H
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XPC

NM_004628.5:p.R492H

Associated Papers

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM11_ESM.xlsx › Supplementary_Data_8

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Muscat AM et al.

Oncotarget, 2018

29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2

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.s004.xlsx › S4

Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population.

Paszkowska-Szczur K et al.

Molecular Biology Reports, 2015

Common variants of xeroderma pigmentosum genes and prostate cancer risk.

Mirecka A et al.

Gene, 2014

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3

Xeroderma pigmentosum genes and melanoma risk.

Paszkowska-Szczur K et al.

International Journal of Cancer, 2013

Note of clarification of data in the meta-analysis of XPC 939A>C and 499C>T polymorphisms in skin cancer.

Wang SQ et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

Soufir N et al.

The Journal of Investigative Dermatology, 2010

A comprehensive haplotype analysis of the XPC genomic sequence reveals a cluster of genetic variants associated with sensitivity to tobacco-smoke mutagens.

Rondelli CM et al.

Toxicological Sciences : an Official Journal of the Society of Toxicology, 2010

Xeroderma pigmentosum complementation group C genotypes/diplotypes play no independent or interaction role with polycyclic aromatic hydrocarbons-DNA adducts for breast cancer risk.

Shen J et al.

European Journal of Cancer (oxford, England : 1990), 2008

DNA repair genetic polymorphisms and risk of colorectal cancer in the Czech Republic.

Pardini B et al.

Mutation Research, 2008

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.

Rivera-Begeman A et al.

Dna Repair, 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

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

No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma.

Blankenburg S et al.

European Journal of Human Genetics : Ejhg, 2005

Sporadic colorectal cancer and individual susceptibility: a review of the association studies investigating the role of DNA repair genetic polymorphisms.

Naccarati A et al.

Mutation Research, 0

Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.

Feltes BC

Mutation Research. Reviews in Mutation Research, 0

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