Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.E109K
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EXO1

NM_130398.4:p.E109K

Associated Papers

Role of EXO1 nuclease activity in genome maintenance, the immune response and tumor suppression in Exo1D173A mice.

Wang S et al.

Nucleic Acids Research, 2022

Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes.

Ghieh F et al.

Human Reproduction (oxford, England), 2022

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Song H et al.

Journal of Medical Genetics, 2021

32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_6

Multiple DSB Resection Activities Redundantly Promote Alternative End Joining-Mediated Class Switch Recombination.

Sun X et al.

Frontiers in Cell and Developmental Biology, 2021

EXO1 Plays a Carcinogenic Role in Hepatocellular Carcinoma and is related to the regulation of FOXP3.

Yang G et al.

Journal of Cancer, 2020

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

Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

Lhota F et al.

Clinical Genetics, 2016

Influence of a single-nucleotide polymorphism of the DNA mismatch repair-related gene exonuclease-1 (rs9350) with prostate cancer risk among Chinese people.

Zhang Y et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2016

Antibody diversification caused by disrupted mismatch repair and promiscuous DNA polymerases.

Zanotti KJ et al.

Dna Repair, 2016

Biochemical characterization of a cancer-associated E109K missense variant of human exonuclease 1.

Bregenhorn S et al.

Nucleic Acids Research, 2014

Hydrolytic function of Exo1 in mammalian mismatch repair.

Shao H et al.

Nucleic Acids Research, 2014

Mammalian Exo1 encodes both structural and catalytic functions that play distinct roles in essential biological processes.

Schaetzlein S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome.

Sun X et al.

Cancer Research, 2002

Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms.

Wu Y et al.

Gastroenterology, 2001

Exonuclease 1 and its versatile roles in DNA repair.

Keijzers G et al.

Critical Reviews in Biochemistry and Molecular Biology, 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."