Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.Q92H
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BMPR2

NM_001204.7:p.Q92H

Associated Papers

The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.

Okhrimenko G et al.

Respiratory Research, 2025

40229839 (PubMed )
Supplement: 12931_2025_3214_MOESM2_ESM.xlsx › Assessment_

Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope.

Lee SH et al.

Journal of Cardiovascular Development and Disease, 2022

36005429 (PubMed )
Supplement: jcdd-09-00265-s001.zip › jcdd-1819276-supplementary.pdf

Type II BMP and activin receptors BMPR2 and ACVR2A share a conserved mode of growth factor recognition.

Chu KY et al.

The Journal of Biological Chemistry, 2022

Crystal structures of BMPRII extracellular domain in binary and ternary receptor complexes with BMP10.

Guo J et al.

Nature Communications, 2022

Case Report: BMPR2-Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension.

Takashima T et al.

Frontiers in Cardiovascular Medicine, 2021

Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Abbasi Y et al.

Molecular Genetics & Genomic Medicine, 2018

BMPR2 mutation is a potential predisposing genetic risk factor for congenital heart disease associated pulmonary vascular disease.

Liu D et al.

International Journal of Cardiology, 2016

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD et al.

Human Mutation, 2015

An anomalous unilateral single pulmonary vein associated with a bone morphogenetic protein receptor II gene mutation.

Koyama K et al.

Internal Medicine (tokyo, Japan), 2014

Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice.

Kobayashi H et al.

Pulmonary Circulation, 0

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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."