Varaico: Literature-Extracted Genetic Variants

Gene:MASP2
Variant:p.V377A
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MASP2

NM_006610.4:p.V377A

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

An optimized tissue sampling scheme guided by MRI features reveals intratumoral heterogeneity in glioblastoma.

Wang JH et al.

Scientific Reports, 2025

41006500 (PubMed )
Supplement: 41598_2025_17539_MOESM6_ESM.xls › Supplementary_Table.2

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

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

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

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

Mannose-Binding Lectin and Mannose-Binding Lectin-Associated Serine Protease-2 Genotypes and Serum Levels in Patients with Sporotrichosis.

Bao F et al.

The American Journal of Tropical Medicine and Hygiene, 2019

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

Lu H et al.

Critical Care (london, England), 2019

30683156 (PubMed )
Supplement: 13054_2019_2313_MOESM3_ESM.docx

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

Silva AA et al.

International Journal of Immunogenetics, 2018

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

Chen M et al.

Bmc Infectious Diseases, 2015

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Nasuno T et al.

Cancer Science, 2014

24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1

Association of MASP-2 levels and MASP2 gene polymorphisms with rheumatoid arthritis in patients and their relatives.

Goeldner I et al.

Plos One, 2014

Mannose binding lectin and mannose binding lectin-associated serine protease-2 genes polymorphisms in human T-lymphotropic virus infection.

Coelho AV et al.

Journal of Medical Virology, 2013

Leprosy association with low MASP-2 levels generated by MASP2 haplotypes and polymorphisms flanking MAp19 exon 5.

Boldt AB et al.

Plos One, 2013

Mannose-binding lectin and MBL-associated serine protease-2 gene polymorphisms in a Brazilian population from Rio de Janeiro.

Ferraroni NR et al.

International Journal of Immunogenetics, 2012

MASP2 gene polymorphism is associated with susceptibility to hepatitis C virus infection.

Tulio S et al.

Human Immunology, 2011

MASP2 haplotypes are associated with high risk of cardiomyopathy in chronic Chagas disease.

Boldt AB et al.

Clinical Immunology (orlando, Fla.), 2011

Lack of association between polymorphisms of MASP2 and susceptibility to SARS coronavirus infection.

Wang Y et al.

Bmc Infectious Diseases, 2009

Polymorphisms in mannan-binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity.

Thiel S et al.

Journal of Immunology (baltimore, Md. : 1950), 2009

Polymorphisms in innate immunity genes predispose to bacteremia and death in the medical intensive care unit.

Henckaerts L et al.

Critical Care Medicine, 2009

Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms.

Thiel S et al.

Genes and Immunity, 2007

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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."