Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.A792V
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ERCC5

NM_000123.4:p.A792V

Associated Papers

Molecular architecture and functional dynamics of the pre-incision complex in nucleotide excision repair.

Yu J et al.

Nature Communications, 2024

39353945 (PubMed )
Supplement: 41467_2024_52860_MOESM1_ESM.pdf

XPG: a multitasking genome caretaker.

Muniesa-Vargas A et al.

Cellular and Molecular Life Sciences : Cmls, 2022

Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.

Frank MS et al.

Cancers, 2021

35008297 (PubMed )
Supplement: cancers-14-00132-s001.zip › Supplementary_Table_S1.xlsx › Overview_ver2

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: Table4.XLSX › ERCC5

The crystal structure of human XPG, the xeroderma pigmentosum group G endonuclease, provides insight into nucleotide excision DNA repair.

González-Corrochano R et al.

Nucleic Acids Research, 2020

Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations.

Tsutakawa SE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Pugh J et al.

Jama Dermatology, 2019

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.

Chikhaoui A et al.

Frontiers in Genetics, 2019

BERing the burden of damage: Pathway crosstalk and posttranslational modification of base excision repair proteins regulate DNA damage management.

Limpose KL et al.

Dna Repair, 2017

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

Drury S et al.

American Journal of Medical Genetics. Part A, 2014

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

Sehgal M et al.

Gene, 2014

Crystal structure of the catalytic core of Rad2: insights into the mechanism of substrate binding.

Miętus M et al.

Nucleic Acids Research, 2014

Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription.

Schäfer A et al.

The Journal of Investigative Dermatology, 2013

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

Soltys DT et al.

Human Mutation, 2013

XPG: its products and biological roles.

Schärer OD

Advances in Experimental Medicine and Biology, 2008

XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients.

Ito S et al.

Molecular Cell, 2007

Suppression of UV-induced apoptosis by the human DNA repair protein XPG.

Clément V et al.

Cell Death and Differentiation, 2006

Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method.

Shiomi N et al.

Molecular and Cellular Biology, 2004

The XPG story.

Clarkson SG

Biochimie, 2003

Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription. implications for Cockayne syndrome.

Lee SK et al.

Cell, 2002

Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

Emmert S et al.

The Journal of Investigative Dermatology, 2002

The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.

Lalle P et al.

The Journal of Investigative Dermatology, 2002

Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

Zafeiriou DI et al.

Pediatric Research, 2001

Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair.

Constantinou A et al.

The Journal of Biological Chemistry, 1999

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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