Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.Q6*
Back to variants list

BMPR2

NM_001204.7:p.Q6*

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_

Mutational landscape of inflammatory breast cancer.

Bertucci F et al.

Journal of Translational Medicine, 2024

38637846 (PubMed )
Supplement: 12967_2024_5198_MOESM3_ESM.xlsx › Table_S3

Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.

Gamou S et al.

Clinical Genetics, 2018

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Abou Hassan OK et al.

Bmc Medical Genetics, 2018

A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.

Higasa K et al.

Bmc Pulmonary Medicine, 2017

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

Machado RD et al.

Human Mutation, 2015

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.

Abou Hassan OK et al.

Scientific Reports, 2015

25742962 (PubMed )
Supplement: srep08848-s1.docx

Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension.

Kataoka M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."