Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.R592P
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ERCC2

NM_000400.4:p.R592P

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

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.

Lanzafame M et al.

Human Mutation, 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

Structural basis of TFIIH activation for nucleotide excision repair.

Kokic G et al.

Nature Communications, 2019

31253769 (PubMed )
Supplement: 41467_2019_10745_MOESM1_ESM.pdf

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

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Leong TL et al.

Oncogene, 2019

30348992 (PubMed )
Supplement: 41388_2018_536_MOESM6_ESM.xlsx › Germline_Variants

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

In TFIIH, XPD helicase is exclusively devoted to DNA repair.

Kuper J et al.

Plos Biology, 2014

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

New clinico-genetic classification of trichothiodystrophy.

Morice-Picard F et al.

American Journal of Medical Genetics. Part A, 2009

Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.

Nishiwaki T et al.

Dna Repair, 2008

Structure of the DNA repair helicase XPD.

Liu H et al.

Cell, 2008

Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts.

Nishiwaki Y et al.

The Journal of Investigative Dermatology, 2004

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."