Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.R190S
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BMP2

NM_001200.4:p.R190S

Associated Papers

Iron Metabolism Genes Shape the Course of Liver Fibrosis in Chronic Hepatitis C: From Disease Progression to Reversal After Direct-Acting Antivirals Treatment.

Ferreira J et al.

Viruses, 2025

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway.

Ouyang Q et al.

Orphanet Journal of Rare Diseases, 2024

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

Wu J et al.

Frontiers in Genetics, 2022

35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.

Ewing AD et al.

American Journal of Medical Genetics. Part A, 2021

33960642 (PubMed )
Supplement: AJMG-185-2070-s002.xlsx › Table_S3_Hedgehog_gene_variants

Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.

Borgel A et al.

Clinics and Research in Hepatology and Gastroenterology, 2020

Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies.

Pope DH et al.

Journal of Clinical Medicine, 2020

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Role of Bone Morphogenetic Protein 2 Polymorphisms in Bone Mineral Density after the Start of Treatment with Atorvastatin.

Usategui-Martín R et al.

Basic & Clinical Pharmacology & Toxicology, 2018

Bone mineral density and the 570A>T polymorphism of the bone morphogenetic protein 2 (BMP2) gene in patients with inflammatory bowel disease: a cross-sectional study.

Krela-Kazmierczak I et al.

Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2017

Association Studies of Bone Morphogenetic Protein 2 Gene Polymorphisms With Acute Rejection in Kidney Transplantation Recipients.

Park MS et al.

Transplantation Proceedings, 2017

Two novel BMP-2 variants identified in patients with thoracic ossification of the ligamentum flavum.

Qu X et al.

European Journal of Human Genetics : Ejhg, 2017

A coding polymorphism in the BMP2 gene is associated with iron overload in non-HFE haemochromatosis patients.

Lamoril J et al.

Blood Cells, Molecules & Diseases, 2015

[Polymorphism of bone morphogenetic protein (BMP2) and osteoporosis etiology].

Wolski H et al.

Ginekologia Polska, 2015

[BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis].

Zou C et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2015

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › all_info

Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.

Breitfeld J et al.

Bmc Endocrine Disorders, 2013

24289245 (PubMed )
Supplement: 1472-6823-13-56-S2.xls › Sequenzen

A single nucleotide polymorphism in the human bone morphogenetic protein-2 gene (109T > G) affects the Smad signaling pathway and the predisposition to ossification of the posterior longitudinal ligament of the spine.

Yan L et al.

Chinese Medical Journal, 2013

Phenotype characterization and sequence analysis of BMP2 and BMP4 variants in two Mexican families with oligodontia.

Mu Y et al.

Genetics and Molecular Research : Gmr, 2012

Mild iron overload in an African American man with SLC40A1 D270V.

Lee PL et al.

Acta Haematologica, 2012

Coding polymorphisms of bone morphogenetic protein 2 contribute to the development of childhood IgA nephropathy.

Suh JS et al.

Experimental and Therapeutic Medicine, 2011

Lack of association of bone morphogenetic protein 2 gene haplotypes with bone mineral density, bone loss, or risk of fractures in men.

Varanasi SS et al.

Journal of Osteoporosis, 2011

Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction network.

Savas S et al.

Physiological Genomics, 2007

BMP-2 gene polymorphisms and osteoporosis: the Rotterdam Study.

Medici M et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006

Single-nucleotide polymorphisms and haplotypes of bone morphogenetic protein genes and peripheral bone mineral density in young Korean men and women.

Choi JY et al.

Calcified Tissue International, 2006

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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."