Varaico: Literature-Extracted Genetic Variants

Gene:MASP2
Variant:p.P126L
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MASP2

NM_006610.4:p.P126L

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

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

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

Low MBL-associated serine protease 2 (MASP-2) levels correlate with urogenital schistosomiasis in Nigerian children.

Ojurongbe O et al.

Tropical Medicine & International Health : Tm & Ih, 2015

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

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."