Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.R915L
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TEK

NM_000459.5:p.R915L

Associated Papers

Theragnostic approach of venous malformations in 2025: Similarities and differences with oncology advances.

Dompmartin A et al.

Presse Medicale (paris, France : 1983), 2025

The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.

Butnariu LI et al.

International Journal of Molecular Sciences, 2022

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.

Diociaiuti A et al.

Biomedicines, 2022

A pediatric case of TEK-Related malformations and marfanoid habitus: an incidental finding or a feature?

Buonuomo PS et al.

Lymphology, 2022

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.

Bell LM et al.

Human Molecular Genetics, 2021

Bockenheimer disease is associated with a TEK variant.

Sudduth CL et al.

Cold Spring Harbor Molecular Case Studies, 2021

The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.

Nguyen V et al.

International Journal of Molecular Sciences, 2019

Etiology and Genetics of Congenital Vascular Lesions.

Queisser A et al.

Otolaryngologic Clinics of North America, 2018

Review of the endothelial pathogenic mechanism of TIE2-related venous malformation.

Du Z et al.

Journal of Vascular Surgery. Venous and Lymphatic Disorders, 2017

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.

Soblet J et al.

The Journal of Investigative Dermatology, 2017

Common and specific effects of TIE2 mutations causing venous malformations.

Nätynki M et al.

Human Molecular Genetics, 2015

KIDs rule: regulatory phosphorylation of RTKs.

Locascio LE et al.

Trends in Biochemical Sciences, 2013

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.

Limaye N et al.

Nature Genetics, 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."