Varaico: Literature-Extracted Genetic Variants

Gene:GNB2
Variant:p.K78E
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GNB2

NM_005273.4:p.K78E

Associated Papers

MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations.

Nasim S et al.

Biorxiv : the Preprint Server for Biology, 2025

A Review of Sturge-Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways.

Joslyn KE et al.

Molecules (basel, Switzerland), 2024

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Revencu N et al.

Orphanet Journal of Rare Diseases, 2024

38778413 (PubMed )
Supplement: 13023_2024_3196_MOESM2_ESM.xlsx › GNB2_SWS

Capillary malformations.

Hammill AM et al.

The Journal of Clinical Investigation, 2024

Sturge-Weber syndrome: updates in translational neurology.

Solomon C et al.

Frontiers in Neurology, 2024

Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Richter-Pechańska P et al.

Leukemia, 2022

35585141 (PubMed )
Supplement: 41375_2022_1587_MOESM1_ESM.xlsx › Suppl.Tab.1

Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.

Huang L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2022

A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.

Fjær R et al.

Human Molecular Genetics, 2021

Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.

Yoda A et al.

Nature Medicine, 2015

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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."