Varaico: Literature-Extracted Genetic Variants

Gene:MASP2
Variant:p.D120G
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MASP2

NM_006610.4:p.D120G

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

Association between MASP2 gene polymorphisms and susceptibility to Covid-19 in Iranian patients: a case-control study.

Jabbari M et al.

Bmc Infectious Diseases, 2025

Absence of evidence to diagnose lectin pathway deficiencies with a monogenic inborn error of immunity.

García-Soidán A et al.

The Journal of Allergy and Clinical Immunology, 2025

Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.

Kovanda A et al.

International Journal of Molecular Sciences, 2024

AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.

Kim J et al.

Bioinformatics (oxford, England), 2024

38426335 (PubMed )
Supplement: btae114_supplementary_data.zip › Table-S2.xlsx › Supplementary_Table_S2

Plasma proteomic associations with genetics and health in the UK Biobank.

Sun BB et al.

Nature, 2023

Mannose-binding lectin gene 2 variant DD (rs 5030737) is associated with susceptibility to COVID-19 infection in the urban population of Patna City (India).

Sharma S et al.

Molecular Genetics and Genomics : Mgg, 2023

Ficolin-3 and MASP-2 gene variants in Siberian arctic populations: Summarized evidence of selective pressure for the high frequency of lectin complement pathway deficiency.

Tereshchenko SY et al.

Scandinavian Journal of Immunology, 2023

Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.

Reis BCSD et al.

Frontiers in Cellular and Infection Microbiology, 2023

Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.

Malik D et al.

Genes and Immunity, 2022

An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A et al.

Communications Biology, 2022

36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S1

Mannose binding lectin-associated serine protease 2 (MASP2) gene polymorphism and susceptibility to human T-lymphotropic virus type 1 (HTLV-1) infection in blood donors from Mashhad, Iran.

Aghamohammadi A et al.

Microbiology and Immunology, 2022

Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.

Collen LV et al.

Journal of Crohn's & Colitis, 2022

Low levels of the innate immune system proteins MASP-2 and MAp44 in patients with common variable immunodeficiency.

Mistegaard CE et al.

Scandinavian Journal of Immunology, 2022

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

Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).

Parsopoulou F et al.

Frontiers in Allergy, 2022

Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.

Naumova E et al.

Frontiers in Immunology, 2022

36211402 (PubMed )
Supplement: DataSheet_1.pdf

Prevalence of the polymorphic H-f icolin (FCN3) genes and mannose-binding lectin-associated serine protease-2 (MASP2) in indigenous populations from the Russian Arctic regions.

Smolnikova MV et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2021

Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.

Ashton JJ et al.

Clinical and Translational Gastroenterology, 2020

Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway.

García-Laorden MI et al.

Journal of Clinical Immunology, 2020

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases

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_8.docx

Effects of MASP2 haplotypes and MASP-2 levels in hepatitis C-infected patients.

Silva AA et al.

International Journal of Immunogenetics, 2018

The Role of Complement Activating Collectins and Associated Serine Proteases in Patients With Hematological Malignancies, Receiving High-Dose Chemotherapy, and Autologous Hematopoietic Stem Cell Transplantations (Auto-HSCT).

Świerzko AS et al.

Frontiers in Immunology, 2018

Association between MASP-2 gene polymorphism and risk of infection diseases: A meta-analysis.

Fu J et al.

Microbial Pathogenesis, 2016

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

Association between targeted somatic mutation (TSM) signatures and HGS-OvCa progression.

Lindley RA et al.

Cancer Medicine, 2016

27485054 (PubMed )
Supplement: CAM4-5-2629-s002.pdf

Frequency and distribution of FCN2 and FCN3 functional variants among MBL2 genotypes.

Bjarnadottir H et al.

Immunogenetics, 2016

Components of the lectin pathway of complement activation in paediatric patients of intensive care units.

Świerzko AS et al.

Immunobiology, 2016

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

Impact of MBL and MASP-2 gene polymorphism and its interaction on susceptibility to tuberculosis.

Chen M et al.

Bmc Infectious Diseases, 2015

Genetic polymorphisms of the BMAP-28 and MASP-2 genes and their correlation with the somatic cell score in Chinese Holstein cattle.

Wu J et al.

Genetics and Molecular Research : Gmr, 2015

Mannose-Binding Lectin (MBL) and MBL-associated serine protease-2 (MASP-2) in women with malignant and benign ovarian tumours.

Swierzko AS et al.

Cancer Immunology, Immunotherapy : Cii, 2014

Restoration of MBL-deficiency: redefining the safety, efficacy and viability of MBL-substitution therapy.

Keizer MP et al.

Molecular Immunology, 2014

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