Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.S863N
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BMPR2

NM_001204.7:p.S863N

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_

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.

Hornbeck PV et al.

Nucleic Acids Research, 2019

30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1

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

Patiño LC et al.

Systems Biology in Reproductive Medicine, 2017

Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations.

Wang H et al.

Plos One, 2014

Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension.

Wang H et al.

Clinical Genetics, 2010

Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension.

Wang H et al.

European Journal of Human Genetics : Ejhg, 2009

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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."