Varaico: Literature-Extracted Genetic Variants

Gene:HABP2
Variant:p.G534E
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HABP2

NM_004132.5:p.G534E

Associated Papers

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Reeve MP et al.

Nature Genetics, 2026

Genomic analysis of PLNTY-like tumor progression into epithelioid glioblastoma: a case report.

Mäntylä S et al.

Acta Neuropathologica Communications, 2026

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

The Impact of Genetic and Acquired Risk Factors on Thromboembolic Events: A Retrospective Study.

Rapino L et al.

Hamostaseologie, 2025

A Heterozygous Variant in HABP2 Causing Increased Risk of Arterial and Venous Thrombosis in a Young Male: Diagnostic and Therapeutic Challenges.

Al-Busaidi S et al.

Case Reports in Medicine, 2025

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.

Saevarsdottir S et al.

Nature Communications, 2024

38982041 (PubMed )
Supplement: 41467_2024_50007_MOESM4_ESM.xlsx › SD3

Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing.

Chen F et al.

Thrombosis Research, 2023

Integrative analyses of genes about venous thromboembolism: An umbrella review of systematic reviews and meta-analyses.

Lee S et al.

Medicine, 2022

Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.

Toss A et al.

Current Oncology Reports, 2022

Genetic susceptibility to hereditary non-medullary thyroid cancer.

Kamani T et al.

Hereditary Cancer in Clinical Practice, 2022

Proteolytic activation of the epithelial sodium channel (ENaC) by factor VII activating protease (FSAP) and its relevance for sodium retention in nephrotic mice.

Artunc F et al.

Pflugers Archiv : European Journal of Physiology, 2022

Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.

Sánchez-Ares M et al.

Frontiers in Endocrinology, 2022

Genome-wide association study of cardiac troponin I in the general population.

Moksnes MR et al.

Human Molecular Genetics, 2021

33961016 (PubMed )
Supplement: hmg-2021-am-00007_r1_moksnes_supp_tables_ddab124.xls › S1

Familial non-medullary thyroid cancer: a critical review.

Capezzone M et al.

Journal of Endocrinological Investigation, 2021

Familial non medullary thyroid carcinoma: Beyond the syndromic forms.

Orois A et al.

Endocrinologia, Diabetes Y Nutricion, 2021

Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.

Cameselle-Teijeiro JM et al.

Endocrine Pathology, 2021

Association between FSAP 1601G>A polymorphism and venous thromboembolism risk: A meta-analysis.

Da L et al.

Phlebology, 2020

A Germline CHEK2 Mutation in a Family with Papillary Thyroid Cancer.

Zhao Y et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

An update on familial nonmedullary thyroid cancer.

Ammar SA et al.

Endocrine, 2020

Germline Mutations in Familial Papillary Thyroid Cancer.

Sarquis M et al.

Endocrine Pathology, 2020

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

Clinical and Genetic Features of a Large Monocentric Series of Familial Non-Medullary Thyroid Cancers.

Cirello V et al.

Frontiers in Endocrinology, 2020

Multi-omics Signatures and Translational Potential to Improve Thyroid Cancer Patient Outcome.

Boufraqech M et al.

Cancers, 2019

Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways.

Srivastava A et al.

Biomolecules, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.

Hińcza K et al.

Genes, 2019

Targeted next-generation sequencing in papillary thyroid carcinoma patients looking for germline variants predisposing to the disease.

Shen CT et al.

Endocrine, 2019

Chromosome 10q25 polymorphism is associated with susceptibility to large artery atherosclerotic stroke.

Gu M et al.

Gene, 2019

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › BE-2C

Genome-wide analysis of genetic determinants of circulating factor VII-activating protease (FSAP) activity.

Olsson M et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Expression of the Marburg I Single Nucleotide Polymorphism (MI-SNP) and the Marburg II Single Nucleotide Polymorphism (MII-SNP) of the Factor VII-Activating Protease (FSAP) Gene and Risk of Coronary Artery Disease (CAD): A Pilot Study in a Single Population.

Parahuleva MS et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2018

Letter regarding the article: "Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of "thyroid-checked" controls" by Kern et al.

Colombo C et al.

European Journal of Medical Genetics, 2018

Hereditary and familial thyroid tumours.

Guilmette J et al.

Histopathology, 2018

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

The p.G534E variant of HABP2 is not associated with sporadic papillary thyroid carcinoma in a Polish population.

Kowalik A et al.

Oncotarget, 2017

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

Lee EJ et al.

Blood Advances, 2017

The G534E variant in HABP2 is not associated with increased risk of familial nonmedullary thyroid cancer in Brazilian Kindreds.

de Mello LEB et al.

Clinical Endocrinology, 2017

Next Generation Sequencing and Association Studies in Familial Nonmedullary Thyroid Carcinoma: Let's Choose Appropriate Controls.

Cazabat L et al.

European Thyroid Journal, 2017

HABP2 p.G534E variant in patients with family history of thyroid and breast cancer.

Pinheiro M et al.

Oncotarget, 2017

Segregation and expression analyses of hyaluronan-binding protein 2 (HABP2): insights from a large series of familial non-medullary thyroid cancers and literature review.

Colombo C et al.

Clinical Endocrinology, 2017

HABP2 G534E variation in familial non-medullary thyroid cancer: an Italian series.

Cantara S et al.

Journal of Endocrinological Investigation, 2017

Role of glycine 221 in catalytic activity of hyaluronan-binding protein 2.

Stavenuiter F et al.

The Journal of Biological Chemistry, 2017

Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of "thyroid-checked" controls.

Kern B et al.

European Journal of Medical Genetics, 2017

Pitfalls of exome sequencing: a case study of the attribution of HABP2 rs7080536 in familial non-medullary thyroid cancer.

Gerhard GS et al.

Npj Genomic Medicine, 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."