Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.W690S
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XPC

NM_004628.5:p.W690S

Associated Papers

Structural modeling and analyses of genetic variations in the human XPC nucleotide excision repair protein.

Le J et al.

Journal of Biomolecular Structure & Dynamics, 2023

Histone deacetylation regulates nucleotide excision repair through an interaction with the XPC protein.

Kusakabe M et al.

Iscience, 2022

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Pugh J et al.

Jama Dermatology, 2019

ASH1L histone methyltransferase regulates the handoff between damage recognition factors in global-genome nucleotide excision repair.

Balbo Pogliano C et al.

Nature Communications, 2017

Functional regulation of the DNA damage-recognition factor DDB2 by ubiquitination and interaction with xeroderma pigmentosum group C protein.

Matsumoto S et al.

Nucleic Acids Research, 2015

XPC promotes MDM2-mediated degradation of the p53 tumor suppressor.

Krzeszinski JY et al.

Molecular Biology of the Cell, 2014

A DNA repair complex functions as an Oct4/Sox2 coactivator in embryonic stem cells.

Fong YW et al.

Cell, 2011

In vitro functional effects of XPC gene rare variants from bladder cancer patients.

Qiao B et al.

Carcinogenesis, 2011

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.

Khan SG et al.

Dna Repair, 2009

In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation.

Yasuda G et al.

Molecular and Cellular Biology, 2007

An aromatic sensor with aversion to damaged strands confers versatility to DNA repair.

Maillard O et al.

Plos Biology, 2007

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.

Rivera-Begeman A et al.

Dna Repair, 2007

Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein.

Bunick CG et al.

Biochemistry, 2006

Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.

Chavanne F et al.

Cancer Research, 2000

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."