Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.S107P
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BMPR2

NM_001204.7:p.S107P

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_

Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar.

Eichstaedt CA et al.

Human Mutation, 2025

Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.

Eichstaedt CA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

Molecular genetic framework underlying pulmonary arterial hypertension.

Southgate L et al.

Nature Reviews. Cardiology, 2020

New pathogenic variant of BMPR2 in pulmonary arterial hypertension.

Yang X et al.

Cardiology in the Young, 2019

Evolutionary conservation and mutational spectrum of BMPR2 gene.

Wong WK et al.

Gene, 2006

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

Machado RD et al.

Human Mutation, 2006

BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.

Roberts KE et al.

The European Respiratory Journal, 2004

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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."