Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.R490Q
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ERCC4

NM_005236.3:p.R490Q

Associated Papers

Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.

Senju C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

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 › ERCC4

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

Pugh J et al.

Jama Dermatology, 2019

Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.

Suo SB et al.

Journal of Proteome Research, 2013

23298314 (PubMed )
Supplement: pr301007j_si_005.pdf
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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."