Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.K48R
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ERCC2

NM_000400.4:p.K48R

Associated Papers

Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.

Börcsök J et al.

The Journal of Clinical Investigation, 2025

40829180 (PubMed )
Supplement: jci-135-186688-s236.xlsx › SFigure5E-G

Nucleotide Excision Repair: Insights into Canonical and Emerging Functions of the Transcription/DNA Repair Factor TFIIH.

Zachayus A et al.

Genes, 2025

How to limit the speed of a motor: the intricate regulation of the XPB ATPase and translocase in TFIIH.

Kappenberger J et al.

Nucleic Acids Research, 2020

Facile and scalable expression and purification of transcription factor IIH (TFIIH) core complex.

Sanles-Falagan R et al.

Protein Expression and Purification, 2020

Structural basis of TFIIH activation for nucleotide excision repair.

Kokic G et al.

Nature Communications, 2019

Role of XPD in cellular functions: To TFIIH and beyond.

Houten BV et al.

Dna Repair, 2016

Tripartite DNA Lesion Recognition and Verification by XPC, TFIIH, and XPA in Nucleotide Excision Repair.

Li CL et al.

Molecular Cell, 2015

XPD localizes in mitochondria and protects the mitochondrial genome from oxidative DNA damage.

Liu J et al.

Nucleic Acids Research, 2015

Polymorphisms in the nuclear excision repair gene ERCC2/XPD and susceptibility to cutaneous basal cell carcinoma.

Sun Y et al.

International Journal of Clinical and Experimental Medicine, 2015

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

Kuper J et al.

Plos Biology, 2014

ARCH domain of XPD, an anchoring platform for CAK that conditions TFIIH DNA repair and transcription activities.

Abdulrahman W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

DNA quality control by a lesion sensor pocket of the xeroderma pigmentosum group D helicase subunit of TFIIH.

Mathieu N et al.

Current Biology : Cb, 2013

XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase.

Fuss JO et al.

Dna Repair, 2011

Two-step recognition of DNA damage for mammalian nucleotide excision repair: Directional binding of the XPC complex and DNA strand scanning.

Sugasawa K et al.

Molecular Cell, 2009

Molecular insights into the recruitment of TFIIH to sites of DNA damage.

Oksenych V et al.

The Embo Journal, 2009

Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.

Coin F et al.

Molecular Cell, 2007

Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal.

Clarkson SG et al.

Dna Repair, 2005

Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features.

Fujimoto M et al.

The Journal of Investigative Dermatology, 2005

Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.

Dubaele S et al.

Molecular Cell, 2003

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

Codominance associated with overexpression of certain XPD mutations.

Kadkhodayan S et al.

Mutation Research, 2001

TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair.

Winkler GS et al.

The Journal of Biological Chemistry, 2000

Distinct roles for the helicases of TFIIH in transcript initiation and promoter escape.

Bradsher J et al.

The Journal of Biological Chemistry, 2000

Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7.

Tirode F et al.

Molecular Cell, 1999

Mutations in XPD helicase prevent its interaction and regulation by p44, another subunit of TFIIH, resulting in Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) phenotypes.

Coin F et al.

Pathologie-biologie, 1998

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.

Coin F et al.

Nature Genetics, 1998

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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."