Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.A313P
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BMPR2

NM_001204.7:p.A313P

Associated Papers

The association between STAT4 polymorphism and pulmonary arterial hypertension in Chinese patients with primary Sjögren's syndrome.

Hui M et al.

Clinical Rheumatology, 2025

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_

Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan.

Liang KW et al.

Frontiers in Cardiovascular Medicine, 2022

Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertension.

Chaikuad A et al.

Scientific Reports, 2019

Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.

Kim MJ et al.

Bmb Reports, 2017

Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.

John A et al.

Gene, 2015

BMPR-II deficiency elicits pro-proliferative and anti-apoptotic responses through the activation of TGFβ-TAK1-MAPK pathways in PAH.

Nasim MT et al.

Human Molecular Genetics, 2012

[Bone morphogenetic protein type II receptor gene promoter mutation-142G > A in a patient with familial pulmonary arterial hypertension].

Li W et al.

Zhonghua Yi Xue Za Zhi, 2009

Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension.

Nasim MT et al.

Human Molecular Genetics, 2008

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD et al.

Human Mutation, 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."