Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.W814S
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ERCC5

NM_000123.4:p.W814S

Associated Papers

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

Yu J et al.

Nature Communications, 2024

XPG: a multitasking genome caretaker.

Muniesa-Vargas A et al.

Cellular and Molecular Life Sciences : Cmls, 2022

35230528 (PubMed )
Supplement: 18_2022_4194_MOESM1_ESM.xlsx › Sheet1

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

Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features.

Ricotti R et al.

Clinical Genetics, 2018

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

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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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."