Varaico: Literature-Extracted Genetic Variants

Gene:HABP2
Variant:p.E393Q
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HABP2

NM_004132.5:p.E393Q

Associated Papers

Association Study of Hyaluronan-Binding Protein 2 (HABP2) Gene Polymorphisms in Idiopathic Recurrent Pregnancy Loss (RPL) in Korean Women.

Lee JY et al.

International Journal of Molecular Sciences, 2025

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

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

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

Frequent and Rare HABP2 Variants Are Not Associated with Increased Susceptibility to Familial Nonmedullary Thyroid Carcinoma in the Spanish Population.

de Randamie R et al.

Hormone Research in Paediatrics, 2018

Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Lee EJ et al.

Blood Advances, 2017

The Marburg I polymorphism of factor VII activating protease is associated with low proteolytic and low pro-coagulant activity.

Etscheid M et al.

Thrombosis Research, 2012

Variation in hyaluronan-binding protein 2 (HABP2) promoter region is associated with unexplained female infertility.

Altmäe S et al.

Reproductive Sciences (thousand Oaks, Calif.), 2011

Structure-function analysis of factor VII activating protease (FSAP): sequence determinants for heparin binding and cellular functions.

Muhl L et al.

Febs Letters, 2009

The Marburg I variant (G534E) of the factor VII-activating protease determines liver fibrosis in hepatitis C infection by reduced proteolysis of platelet-derived growth factor BB.

Wasmuth HE et al.

Hepatology (baltimore, Md.), 2009

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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."