Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.L350P
Back to variants list

DDB2

NM_000107.3:p.L350P

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

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

Dynamics of DDB2-DDB1 complex under different naturally-occurring mutants in Xeroderma Pigmentosum disease.

Feltes BC et al.

Biochimica Et Biophysica Acta. General Subjects, 2018

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

Chitale S et al.

Oncotarget, 2017

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

UV radiation-induced XPC translocation within chromatin is mediated by damaged-DNA binding protein, DDB2.

Wang QE et al.

Carcinogenesis, 2004

Impaired regulation of tumor suppressor p53 caused by mutations in the xeroderma pigmentosum DDB2 gene: mutual regulatory interactions between p48(DDB2) and p53.

Itoh T et al.

Molecular and Cellular Biology, 2003

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

Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein.

Tang J et al.

Dna Repair, 2002

Human damage-specific DNA-binding protein p48. Characterization of XPE mutations and regulation following UV irradiation.

Nichols AF et al.

The Journal of Biological Chemistry, 2000

[Disorders of DNA repair--xeroderma pigmentosum, and other hereditary diseases with abnormal DNA repair].

Sugano T et al.

Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 1988

[Repair of DNA damaged by methylmethane sulfonate in normal human lymphocytes and in xeroderma pigmentosum].

Genter EI et al.

Tsitologiia, 1985

BRCA1 transcriptionally regulates damaged DNA binding protein (DDB2) in the DNA repair response following UV-irradiation.

Takimoto R et al.

Cancer Biology & Therapy, 0

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

Feltes BC

Mutation Research. Reviews in Mutation Research, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."