Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.D681G
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ERCC2

NM_000400.4:p.D681G

Associated Papers

Translocation mechanism of xeroderma pigmentosum group D protein on single-stranded DNA and genetic disease etiology.

Paul T et al.

Nature Communications, 2025

Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.

Yu J et al.

Nature Communications, 2023

37179334 (PubMed )
Supplement: 41467_2023_38416_MOESM3_ESM.pdf

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 › ERCC2
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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."