Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.C663R
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ERCC2

NM_000400.4:p.C663R

Associated Papers

The role of Transcription Factor IIH complex in nucleotide excision repair.

Hoag A et al.

Environmental and Molecular Mutagenesis, 2024

TFIIH central activity in nucleotide excision repair to prevent disease.

Theil AF et al.

Dna Repair, 2023

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

Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.

Yan C et al.

Nature Structural & Molecular Biology, 2019

31110295 (PubMed )
Supplement: NIHMS1525853-supplement-3.pdf

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

Zhou X et al.

European Journal of Human Genetics : Ejhg, 2013

DNA helicases associated with genetic instability, cancer, and aging.

Suhasini AN et al.

Advances in Experimental Medicine and Biology, 2013

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.

Cleaver JE et al.

Nature Reviews. Genetics, 2009

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

Boyle J et al.

Human Mutation, 2008

Structure of the DNA repair helicase XPD.

Liu H et al.

Cell, 2008

Structural and functional characterization of the human DNA repair helicase XPD by comparative molecular modeling and site-directed mutagenesis of the bacterial repair protein UvrB.

Bienstock RJ et al.

The Journal of Biological Chemistry, 2003

Identification of ICR170-induced XPD mutations in UV-sensitive CHO cells.

Tebbs RS et al.

Environmental and Molecular Mutagenesis, 2001

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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."