Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.A795T
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ERCC5

NM_000123.4:p.A795T

Associated Papers

Cockayne syndrome mutation in XPG activate the integrated stress response.

Zhang D et al.

Human Genetics, 2026

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

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

Garcia-Moreno H et al.

Brain : a Journal of Neurology, 2023

38040034 (PubMed )
Supplement: awad266_supplementary_data.pdf

XPG: a multitasking genome caretaker.

Muniesa-Vargas A et al.

Cellular and Molecular Life Sciences : Cmls, 2022

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

Germline BAP1 mutations predispose to renal cell carcinomas.

Popova T et al.

American Journal of Human Genetics, 2013

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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."