Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.M254V
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ERCC5

NM_000123.4:p.M254V

Associated Papers

Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.

He J et al.

Open Life Sciences, 2024

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

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

Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.

Tsutakawa SE et al.

Frontiers in Molecular Biosciences, 2021

34966786 (PubMed )
Supplement: Table3.XLSX › ERCC5

Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

Rawal RM et al.

3 Biotech, 2015

28324520 (PubMed )
Supplement: 13205_2014_267_MOESM1_ESM.xlsx › WH

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

Paszkowska-Szczur K et al.

Molecular Biology Reports, 2015

Systems biology approach for mutational and site-specific structural investigation of DNA repair genes for xeroderma pigmentosum.

Sehgal M et al.

Gene, 2014

Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

Soltys DT et al.

Human Mutation, 2013

Genetic variants in DNA repair predicts the survival of patients with esophageal cancer.

Lee JM et al.

Annals of Surgery, 2011

ERCC1 haplotypes modify bladder cancer risk: a case-control study.

Ricceri F et al.

Dna Repair, 2010

Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.

Rajaraman P et al.

International Journal of Cancer, 2008

Genetic susceptibility to bladder cancer with an emphasis on gene-gene and gene-environmental interactions.

Horikawa Y et al.

Current Opinion in Urology, 2008

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

García-Closas M 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

Predicting drug response and toxicity based on gene polymorphisms.

Robert J et al.

Critical Reviews in Oncology/hematology, 2005

Nucleotide-excision repair and prostate cancer risk.

Lockett KL et al.

Cancer Letters, 2005

Identifying functional genetic variants in DNA repair pathway using protein conservation analysis.

Savas S et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004

Single nucleotide polymorphisms in the XPG gene: determination of role in DNA repair and breast cancer risk.

Kumar R et al.

International Journal of Cancer, 2003

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

Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications.

Feltes BC et al.

Mutation Research. Reviews in Mutation Research, 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."