Varaico: Literature-Extracted Genetic Variants

Gene:ERCC3
Variant:p.K346R
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ERCC3

NM_000122.2:p.K346R

Associated Papers

TFIIE orchestrates the recruitment of the TFIIH kinase module at promoter before release during transcription.

Compe E et al.

Nature Communications, 2019

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

Li CL et al.

Molecular Cell, 2015

Dynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy.

Traboulsi H et al.

Plos Genetics, 2014

The long unwinding road: XPB and XPD helicases in damaged DNA opening.

Oksenych V et al.

Cell Cycle (georgetown, Tex.), 2010

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

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

Mechanism of open complex and dual incision formation by human nucleotide excision repair factors.

Evans E et al.

The Embo Journal, 1997

Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications.

Feltes BC et al.

Mutation Research. Reviews in Mutation Research, 0

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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."