Varaico: Literature-Extracted Genetic Variants

Gene:UNG
Variant:p.R88C
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UNG

NM_080911.3:p.R88C

Associated Papers

Genetic causes of primary immunodeficiency in the Jordanian population.

Obeidat L et al.

Biomedical Reports, 2024

UNG-RPA interaction governs the choice between high-fidelity and mutagenic uracil repair.

Mu Y et al.

Biorxiv : the Preprint Server for Biology, 2024

The N-terminal domain of uracil-DNA glycosylase: Roles for disordered regions.

Perkins JL et al.

Dna Repair, 2021

DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging.

Tiwari V et al.

American Journal of Human Genetics, 2019

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Leong TL et al.

Oncogene, 2019

30348992 (PubMed )
Supplement: 41388_2018_536_MOESM6_ESM.xlsx › Germline_Variants

Single nucleotide polymorphisms in DNA glycosylases: From function to disease.

D'Errico M et al.

Free Radical Biology & Medicine, 2017

Putative modifier genes in mevalonate kinase deficiency.

Marcuzzi A et al.

Molecular Medicine Reports, 2016

A robust, sensitive assay for genomic uracil determination by LC/MS/MS reveals lower levels than previously reported.

Galashevskaya A et al.

Dna Repair, 2013

Base excision repair and cancer.

Wallace SS et al.

Cancer Letters, 2012

The UNG2 Arg88Cys variant abrogates RPA-mediated recruitment of UNG2 to single-stranded DNA.

Torseth K et al.

Dna Repair, 2012

Variation in base excision repair capacity.

Wilson DM et al.

Mutation Research, 2011

Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

Broderick P et al.

Bmc Cancer, 2006

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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."