Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.D307Y
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DDB2

NM_000107.3:p.D307Y

Associated Papers

Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report.

de Souza Timoteo AR et al.

Bmc Medical Genomics, 2023

Expanding molecular roles of UV-DDB: Shining light on genome stability and cancer.

Beecher M et al.

Dna Repair, 2020

Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.

Karagün E et al.

International Journal of Dermatology, 2020

Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.

Yang R et al.

Bmc Medical Genetics, 2020

Nuclear organization of nucleotide excision repair is mediated by RING1B dependent H2A-ubiquitylation.

Chitale S et al.

Oncotarget, 2017

Systems biology approach for mutational and site-specific structural investigation of DNA repair genes for xeroderma pigmentosum.

Sehgal M et al.

Gene, 2014

PARP1 promotes nucleotide excision repair through DDB2 stabilization and recruitment of ALC1.

Pines A et al.

The Journal of Cell Biology, 2012

DDB2 promotes chromatin decondensation at UV-induced DNA damage.

Luijsterburg MS et al.

The Journal of Cell Biology, 2012

Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.

Oh KS et al.

The Journal of Investigative Dermatology, 2011

Structural basis of UV DNA-damage recognition by the DDB1-DDB2 complex.

Scrima A et al.

Cell, 2008

True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.

Rapić-Otrin V et al.

Human Molecular Genetics, 2003

Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.

Feltes BC

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."