Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.A499V
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XPC

NM_004628.5:p.A499V

Associated Papers

Structural pharmacogenomics of drug-associated SNPs in oral squamous cell carcinoma.

Sunil P et al.

Frontiers in Genetics, 2026

Contribution of Xeroderma Pigmentosum Complementation Group C Genotypes to Colorectal Cancer in Taiwanese.

Tsai YF et al.

Anticancer Research, 2025

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development.

Christofolini DM et al.

American Journal of Medical Genetics. Part A, 2025

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM2_ESM.xlsx › S1c-Control_D_2_HD827

Genomic instability in ovarian cancer: Through the lens of single nucleotide polymorphisms.

Canchi Sistla H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Relationship between ERCC1 and XPC polymorphisms and the susceptibility to head and neck carcinoma: A systematic review, meta-analysis, and trial sequential analysis.

Imani MM et al.

Archives of Oral Biology, 2024

Cancer risks related to intellectual disabilities: A systematic review.

Banda A et al.

Cancer Medicine, 2024

The Role of DNA Repair (XPC, XPD, XPF, and XPG) Gene Polymorphisms in the Development of Myeloproliferative Neoplasms.

Crișan AS et al.

Medicina (kaunas, Lithuania), 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Genetic polymorphisms as potential pharmacogenetic biomarkers for platinum-based chemotherapy in non-small cell lung cancer.

Sito H et al.

Molecular Biology Reports, 2024

SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C.

Nomura F et al.

Genes, 2023

38003022 (PubMed )
Supplement: genes-14-02079-s001.zip › genes-2690793-supplementary.pdf

Impact of DNA repair polymorphisms on DNA instability biomarkers induced by lead (Pb) in workers exposed to the metal.

Nunes EA et al.

Chemosphere, 2023

A Significant Increasing Risk Association between Cigarette Smoking and XPA and XPC Genes Polymorphisms.

Almushawwah S et al.

Genes, 2023

37510255 (PubMed )
Supplement: genes-14-01349-s001.zip › genes-2261163-supplementary.pdf

Structural modeling and analyses of genetic variations in the human XPC nucleotide excision repair protein.

Le J et al.

Journal of Biomolecular Structure & Dynamics, 2023

The current state of genetic risk models for the development of kidney cancer: a review and validation.

Harrison H et al.

Bju International, 2022

35460182 (PubMed )
Supplement: BJU-130-550-s004.pdf

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

A review on the genetic polymorphisms and susceptibility of cancer patients in Bangladesh.

Babu G et al.

Molecular Biology Reports, 2022

Xeroderma Pigmentosum Complementation Group C (XPC): Emerging Roles in Non-Dermatologic Malignancies.

Nasrallah NA et al.

Frontiers in Oncology, 2022

Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.

Brambullo T et al.

Biomed Research International, 2022

Combining Phenotypes of Nucleotide Excision Repair Pathway to Predict the Risk of Head and Neck Squamous Cell Carcinomas in a Chinese Population.

Liang Y et al.

Disease Markers, 2022

A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Ng CC et al.

Frontiers in Molecular Biosciences, 2022

36213130 (PubMed )
Supplement: DataSheet1.xlsx › Table_S9

Targeting DNA damage response as a potential therapeutic strategy for head and neck squamous cell carcinoma.

Lei H et al.

Frontiers in Oncology, 2022

Gene polymorphisms and prognosis of head and neck squamous cell carcinoma: a systematic review.

Rajabi-Moghaddam M et al.

Reports of Practical Oncology and Radiotherapy : Journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology, 2022

Smoking and XPC Gene Polymorphism Interact to Modulate the Risk of Oral Cancer.

Nigam K et al.

Journal of Maxillofacial and Oral Surgery, 2021

Association between polymorphisms rs2228001 and rs2228000 in XPC and genetic susceptibility to preeclampsia: a case control study.

Wang J et al.

Bmc Pregnancy and Childbirth, 2021

Association of DNA repair gene XPC Ala499Val (rs2228000 C>T) and Lys939Gln (rs2228001 A>C) polymorphisms with the risk of chronic myeloid leukemia: A case-control study in a South Indian population.

Lakkireddy S et al.

The Journal of Gene Medicine, 2021

The correlation between polymorphisms in the XPC gene and glioma susceptibility in a Chinese pediatric population.

Zhang Z et al.

Translational Pediatrics, 2021

Single nucleotide polymorphisms and the risk of developing a second primary cancer among head and neck cancer patients: a systematic literature review and meta-analysis.

Hoxhaj I et al.

Bmc Cancer, 2021

Novel EDGE encoding method enhances ability to identify genetic interactions.

Hall MA et al.

Plos Genetics, 2021

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

Radio-adaptive response and correlation of non-homologous end joining repair gene polymorphisms [XRRC5 (3R/2R/1R/0R), XRCC6(C/G) and XRCC7 (G/T)] in human peripheral blood mononuclear cells exposed to gamma radiation.

Shelke S et al.

Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2021

The ECCR1 rs11615, ERCC4 rs2276466, XPC rs2228000 and XPC rs2228001 polymorphisms increase the cervical cancer risk and aggressiveness in the Bangladeshi population.

Das S et al.

Heliyon, 2021

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › _8773__III-7_

Association of polymorphisms in nucleotide excision repair pathway genes with susceptibility to cutaneous melanoma.

Hashemzehi A et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

DNA repair pathways as guardians of the genome: Therapeutic potential and possible prognostic role in hematologic neoplasms.

Rahimian E et al.

Dna Repair, 2020

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC35

Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Montazeri Z et al.

Gut, 2020

31818908 (PubMed )
Supplement: gutjnl-2019-319313supp003.pdf

Environmental exposures and breast cancer risk in the context of underlying susceptibility: A systematic review of the epidemiological literature.

Zeinomar N et al.

Environmental Research, 2020

Distinct Molecular Landscape of Epstein-Barr Virus Associated Pulmonary Lymphoepithelioma-Like Carcinoma Revealed by Genomic Sequencing.

Chau SL et al.

Cancers, 2020

32726920 (PubMed )
Supplement: cancers-12-02065-s001.zip › cancers-870865-supplementary_V2 › Supplementary_Tables_S1-S10.xlsx › Table_S7

XPC exon15 Lys939Gln variant increase susceptibility to prostate adenocarcinoma: Evidence based on 4306 patients and 4779 controls.

Qin F et al.

Medicine, 2020

Polymorphisms in XPC Gene and Risk of Uterine Leiomyoma in Reproductive Women.

Liu ZQ et al.

Pathology Oncology Research : Por, 2020

Polymorphisms in XPC and XPD genes modulate DNA damage in pesticide-exposed agricultural workers of Punjab, North-West India.

Kaur K et al.

Molecular Biology Reports, 2020

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_

Association of DNA repair gene polymorphisms with colorectal cancer risk and treatment outcomes.

Al-Shaheri FN et al.

Experimental and Molecular Pathology, 2020

Cumulative Evidence for Associations between Genetic Variants and Risk of Esophageal Cancer.

Li G et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

31969372 (PubMed )
Supplement: 10559965epi191281-sup-230715_3_supp_6000458_q3kstt.docx

Association between three common genetic polymorphisms of XPC and susceptibility to heroin dependency.

Qasemian-Talgard A et al.

Gene, 2020

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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."