Varaico: Literature-Extracted Genetic Variants

Gene:MBD4
Variant:p.E346K
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MBD4

NM_001276270.2:p.E346K

Associated Papers

Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.

Gaebler C et al.

Nature, 2026

41326734 (PubMed )
Supplement: 41586_2025_9893_MOESM5_ESM.xlsx › filtered_HIV_CD4_binding_putati

Study on epigenetic regulatory mechanism of MBD4 with a germline loss-of-function mutation (rs140693) responsible for retinoblastoma chemoresistance via the cell cycle and apoptotic pathways.

Zhang L et al.

Pharmacological Research, 2026

Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2025

39315505 (PubMed )
Supplement: PCMR-38-0-s002.xlsx › Table_S2

Meta-analysis of the association between MBD4 Glu346Lys polymorphism and cancer risk.

Wang J et al.

The Journal of International Medical Research, 2024

Prognostic Significance of Methyl-CpG Binding Domain4 Polymorphism rs140693 and Clinical Characteristics in Chinese Lung Cancer Patients.

Li Z et al.

Phenomics (cham, Switzerland), 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Metabolic liver cancer: associations of rare and common germline variants in one-carbon metabolism and DNA methylation genes.

Antwi SO et al.

Human Molecular Genetics, 2023

Identifying key mutations of radioresponsive genes in esophageal squamous cell carcinoma.

Xu X et al.

Frontiers in Immunology, 2022

Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanoma.

Repo P et al.

Pigment Cell & Melanoma Research, 2020

Association of DNA repair gene polymorphisms with colorectal cancer risk and treatment outcomes.

Al-Shaheri FN et al.

Experimental and Molecular Pathology, 2020

Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Wang J et al.

Scientific Reports, 2017

28827732 (PubMed )
Supplement: 41598_2017_7737_MOESM1_ESM.pdf

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

D'Errico M et al.

Free Radical Biology & Medicine, 2017

Association of DNA repair gene polymorphisms with response to cisplatin-based concurrent chemoradiotherapy in patients with cervical carcinoma.

Liu JH et al.

Dna Repair, 2016

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis.

Tricarico R et al.

Oncotarget, 2015

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › coding

Base excision repair and cancer.

Wallace SS et al.

Cancer Letters, 2012

The MBD4 Glu346Lys polymorphism is associated with the risk of cervical cancer in a Chinese population.

Xiong XD et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2012

Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: a pathway-based analysis.

Dong J et al.

Molecular Carcinogenesis, 2012

Associations between polymorphisms in DNA repair genes and TP53 mutations in non-small cell lung cancer.

Cho S et al.

Lung Cancer (amsterdam, Netherlands), 2011

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.

Cukier HN et al.

Neurogenetics, 2010

Single nucleotide polymorphism in the methyl-CpG binding domain 4 gene and the risk for immune thrombocytopenic purpura in Chinese population.

Zhao H et al.

Platelets, 2010

The Glu346Lys polymorphism and frameshift mutations of the Methyl-CpG Binding Domain 4 gene in gastrointestinal cancer.

Song JH et al.

Neoplasma, 2009

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

High-order interactions among genetic variants in DNA base excision repair pathway genes and smoking in bladder cancer susceptibility.

Huang M et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

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

Kohno T et al.

Carcinogenesis, 2006

Glu346Lys polymorphism in the methyl-CpG binding domain 4 gene and the risk of primary lung cancer.

Shin MC et al.

Japanese Journal of Clinical Oncology, 2006

Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma.

Hao B et al.

Cancer Research, 2004

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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."