Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.R915C
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TEK

NM_000459.5:p.R915C

Associated Papers

Complex Genetics in Somatic Mosaic Disorders: Evaluating the Rate of Multiple "Hits" in Non-Malignant Lesions.

Nguyen B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2026

Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.

Mitamura S et al.

Molecular Biology Reports, 2025

Blue Nodules in a 2-Year-Old Female With Chronic Severe Anemia.

Ross KR et al.

International Journal of Dermatology, 2025

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

Dompmartin A et al.

Presse Medicale (paris, France : 1983), 2025

Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.

Ghasemi R et al.

Clinical Genetics, 2025

Comprehensive phenotypic and genomic characterization of venous malformations.

Hirose K et al.

Human Pathology, 2024

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.

Cao Y et al.

Genetics in Medicine Open, 2023

Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations.

Nozawa A et al.

Journal of Human Genetics, 2022

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

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

Paolacci S et al.

Journal of Clinical Medicine, 2020

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

Ponatinib Combined With Rapamycin Causes Regression of Murine Venous Malformation.

Li X et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

A xenograft model for venous malformation.

Goines J et al.

Angiogenesis, 2018

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

Classification and Tie2 mutations in spinal and soft tissue vascular anomalies.

Zhou M et al.

Gene, 2015

Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.

Soblet J et al.

Molecular Syndromology, 2013

KIDs rule: regulatory phosphorylation of RTKs.

Locascio LE et al.

Trends in Biochemical Sciences, 2013

Somatic mutations in exon 17 of the TEK gene in vascular tumors and vascular malformations.

Ye C et al.

Journal of Vascular Surgery, 2011

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

Limaye N et al.

Nature Genetics, 2009

The genetics of vascular birthmarks.

Mahajan P et al.

Clinics in Dermatology, 0

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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."