Varaico: Literature-Extracted Genetic Variants

Gene:MBL2
Variant:p.G57E
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MBL2

NM_001378373.1:p.G57E

Associated Papers

MBL2 deficiency and IgA Nephropathy in transplant patients: Is complement inhibition always beneficial?

Stea ED et al.

European Journal of Internal Medicine, 2026

Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.

Al-Subaie AM et al.

Journal of Clinical Medicine, 2026

41753033 (PubMed )
Supplement: jcm-15-01345-s001.zip › jcm-4040495-supplementary.pdf

Association of MBL2 gene polymorphisms with type 2 diabetes and its complications in Moroccan population.

El Alami H et al.

Nucleosides, Nucleotides & Nucleic Acids, 2026

Genetics of childhood tuberculosis: A scoping review.

Pinheiro Mascarenhas MA et al.

Paediatric Respiratory Reviews, 2025

Uncovering rare somatic variants in olfactory receptor genes in Pakistani triple-negative breast cancer patients.

Shawana S et al.

Bmc Cancer, 2025

Examining patient-specific responses to PARP inhibitors in a novel, human induced pluripotent stem cell-based model of breast cancer.

Weddle CJ et al.

Npj Precision Oncology, 2025

40000798 (PubMed )
Supplement: 41698_2025_837_MOESM3_ESM.xlsx › BC9_healthy

Sickle Cell Anemia and Inflammation: A Review of Stones and Landmarks Paving the Road in the Last 25 Years.

Dorneles J et al.

Hematology Reports, 2025

Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India.

Aaron R et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2024

High production MBL2 polymorphisms protect against COVID-19 complications in critically ill patients: A retrospective cohort study.

de Andrade LV et al.

Heliyon, 2024

Global analysis of suppressor mutations that rescue human genetic defects.

Ünlü B et al.

Genome Medicine, 2023

37821946 (PubMed )
Supplement: 13073_2023_1232_MOESM3_ESM.xlsx › Data

MBL2 gene variants and susceptibility to meningitis in Egyptian patients.

Sokkar MF et al.

Gene, 2023

Association between mannose binding lectin gene polymorphisms and clinical severity of COVID-19 in children.

Yilmaz D et al.

Molecular Biology Reports, 2023

A narrative review of precision medicine in neonatal sepsis: genetic and epigenetic factors associated with disease susceptibility.

Dai W et al.

Translational Pediatrics, 2023

Association of the Mannose-Binding Lectin 2 BB Genotype with COVID-19-Related Mortality.

Kashiwagi Y et al.

Life (basel, Switzerland), 2023

Gene polymorphisms and serum levels of mannose-binding lectin in Czech patients with recurrent aphthous stomatitis: A case-control study.

Izakovicova P et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2023

Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Gavriilaki E et al.

Current Issues in Molecular Biology, 2022

35877417 (PubMed )
Supplement: cimb-44-00193-s001.zip › cimb-1755355-supplementary.xlsx › AP_and_LP_variant_comparisons

An overview of human proteins and genes involved in SARS-CoV-2 infection.

Jahanafrooz Z et al.

Gene, 2022

Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

Butnariu LI et al.

Journal of Clinical Medicine, 2021

Toll-Like Receptors and Mannose Binding Lectin Gene Polymorphisms Associated with Cryptosporidial Diarrhea in Children in Southern India.

Liakath FB et al.

The American Journal of Tropical Medicine and Hygiene, 2021

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.

Monticelli M et al.

European Journal of Medical Genetics, 2021

A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations.

Mrazkova J et al.

Diagnostics (basel, Switzerland), 2021

The Role of Mannose-binding Lectin in Infectious Complications of Pediatric Hemato-Oncologic Diseases.

Dobi M et al.

The Pediatric Infectious Disease Journal, 2021

Genetic Association With Pseudomonas aeruginosa Acquisition in Cystic Fibrosis: Influence of Surfactant Protein D and Mannose-Binding Lectin.

Nourkami-Tutdibi N et al.

Frontiers in Immunology, 2021

Pattern Recognition Molecules of Lectin Complement Pathway in Ischemic Stroke.

Tsakanova G et al.

Pharmacogenomics and Personalized Medicine, 2021

Genetic Analysis of TB Susceptibility Variants in Ghana Reveals Candidate Protective Loci in SORBS2 and SCL11A1 Genes.

Asante-Poku A et al.

Frontiers in Genetics, 2021

Mannose-Binding Lectin Levels in Late-Onset Sepsis in Preterm Infants: Results from a Prospective Study in a Tertiary Care Center.

Dogan P et al.

Fetal and Pediatric Pathology, 2020

Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection.

Klaassen K et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2020

Genetic Analysis of Patients With Sickle Cell Anemia and Stroke Before 4 Years of Age Suggest an Important Role for Apoliprotein E.

Brewin JN et al.

Circulation. Genomic and Precision Medicine, 2020

Association of MBL-2 gene polymorphisms with systemic lupus erythematosus: an updated meta-analysis and trial sequential analysis.

Mahto H et al.

Lupus, 2020

Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case-control study in Congolese children.

Bodi JM et al.

Malaria Journal, 2020

Association of MBL2 Exon 1 Polymorphisms With Multibacillary Leprosy.

Tiyo BT et al.

Frontiers in Immunology, 2020

Hepatitis B Virus Infection Among Leprosy Patients: A Case for Polymorphisms Compromising Activation of the Lectin Pathway and Complement Receptors.

Boldt ABW et al.

Frontiers in Immunology, 2020

33643280 (PubMed )
Supplement: Table_2.docx

Herpes simplex encephalitis in adult patients with MASP-2 deficiency.

Bibert S et al.

Plos Pathogens, 2019

Host genetic variability and pneumococcal disease: a systematic review and meta-analysis.

Kloek AT et al.

Bmc Medical Genomics, 2019

31519222 (PubMed )
Supplement: 12920_2019_572_MOESM2_ESM.pdf

Genetic Polymorphism of MBL 2 in Patients with Allergic Bronchial Asthma.

Borta S et al.

Maedica, 2019

Analysis of 75 Candidate SNPs Associated With Acute Rejection in Kidney Transplant Recipients: Validation of rs2910164 in MicroRNA MIR146A.

Oetting WS et al.

Transplantation, 2019

The role of protein complexes in human genetic disease.

Bergendahl LT et al.

Protein Science : a Publication of the Protein Society, 2019

Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Lu H et al.

Critical Care (london, England), 2019

The association of mannose binding lectin genotype and immune response to Chlamydia pneumoniae: The Strong Heart Study.

Monsey L et al.

Plos One, 2019

Association of MBL2 gene polymorphisms with pulmonary tuberculosis susceptibility: trial sequence meta-analysis as evidence.

Mandal RK et al.

Infection and Drug Resistance, 2019

Evaluation of Mannose Binding Lectin Gene Variants in Pediatric Influenza Virus-Related Critical Illness.

Levy ER et al.

Frontiers in Immunology, 2019

Association between MBL2 haplotypes and dengue severity in children from Rio de Janeiro, Brazil.

Ornelas AMM et al.

Memorias Do Instituto Oswaldo Cruz, 2019

31141020 (PubMed )
Supplement: 1678-8060-mioc-114-e190004-s.pdf

MBL2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease: an Egyptian pilot study.

Gomaa MH et al.

Pediatric Rheumatology Online Journal, 2018

Association between TLR2/TLR4 gene polymorphisms and COPD phenotype in a Greek cohort.

Apostolou A et al.

Herz, 2017

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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."