Varaico: Literature-Extracted Genetic Variants

Gene:NUDT1
Variant:p.V83M
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NUDT1

NM_002452.4:p.V83M

Associated Papers

Integrative Computational Analysis of Common EXO5 Haplotypes: Impact on Protein Dynamics, Genome Stability, and Cancer Progression.

Mazza F et al.

Journal of Chemical Information and Modeling, 2025

40115981 (PubMed )
Supplement: ci5c00067_si_002.xlsx › scored_ALL_haplotypes_1MAF_cano

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Individual susceptibility has a major impact on strong association between oxidative stress, defence systems and Parkinson's disease.

Karahalil B et al.

Basic & Clinical Pharmacology & Toxicology, 2022

The impacts of prominent gene polymorphisms in DNA repair enzymes on Parkinson's disease.

Aslan NS et al.

Neuroscience Letters, 2020

Characteristics of genomic alterations of lung adenocarcinoma in young never-smokers.

Luo W et al.

International Journal of Cancer, 2018

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyB

Polymorphisms in base excision repair genes: Breast cancer risk and individual radiosensitivity.

Patrono C et al.

World Journal of Clinical Oncology, 2014

Impact of DNA polymorphisms in key DNA base excision repair proteins on cancer risk.

Karahalil B et al.

Human & Experimental Toxicology, 2012

Association of base excision repair gene polymorphisms with ESRD risk in a Chinese population.

Cai Z et al.

Oxidative Medicine and Cellular Longevity, 2012

Role of OGG1 Ser326Cys polymorphism and 8-oxoguanine DNA damage in risk assessment of squamous cell carcinoma of head and neck in North Indian population.

Kumar A et al.

Mutation Research, 2011

First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.

Morak M et al.

European Journal of Cancer (oxford, England : 1990), 2011

Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma.

Forsbring M et al.

Carcinogenesis, 2009

OGG1, MYH and MTH1 gene variants identified in gastric cancer patients exhibiting both 8-hydroxy-2'-deoxyguanosine accumulation and low inflammatory cell infiltration in their gastric mucosa.

Goto M et al.

Journal of Genetics, 2008

Screening of 214 single nucleotide polymorphisms in 44 candidate cancer susceptibility genes: a case-control study on gastric and colorectal cancers in the Japanese population.

Ikeda S et al.

The American Journal of Gastroenterology, 2008

DNA repair dysfunction in gastrointestinal tract cancers.

Maehara Y et al.

Cancer Science, 2008

Association of a missense single nucleotide polymorphism, Cys1367Arg of the WRN gene, with the risk of bone and soft tissue sarcomas in Japan.

Nakayama R et al.

Cancer Science, 2008

MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas.

Kim JC et al.

Virchows Archiv : an International Journal of Pathology, 2007

Association of polymorphisms in the MTH1 gene with small cell lung carcinoma risk.

Kohno T et al.

Carcinogenesis, 2006

Modulation of oxidative mutagenesis and carcinogenesis by polymorphic forms of human DNA repair enzymes.

Nohmi T et al.

Mutation Research, 2005

Association study of human MTH1 gene polymorphisms with type 1 diabetes mellitus.

Miyako K et al.

Endocrine Journal, 2004

A variant form of hMTH1, a human homologue of the E coli mutT gene, correlates with somatic mutation in the p53 tumour suppressor gene in gastric cancer patients.

Kimura Y et al.

Journal of Medical Genetics, 2004

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