Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.C496Y
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BMPR2

NM_001204.7:p.C496Y

Associated Papers

Consistent Safety and Efficacy of Sotatercept for Pulmonary Arterial Hypertension in BMPR2 Mutation Carriers and Noncarriers: A Planned Analysis of a Phase II, Double-Blind, Placebo-controlled Clinical Trial (PULSAR).

Montani D et al.

American Journal of Respiratory and Critical Care Medicine, 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_

Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.

van den Heuvel LM et al.

Genes, 2020

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

Chaikuad A et al.

Scientific Reports, 2019

A potential functional association between mutant BMPR2 and primary ovarian insufficiency.

Patiño LC et al.

Systems Biology in Reproductive Medicine, 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

[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

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."