Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.R918H
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TEK

NM_000459.5:p.R918H

Associated Papers

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

A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.

Ochiai S et al.

The Journal of Dermatology, 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

Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study.

Martinez-Glez V et al.

Clinical Genetics, 2022

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

Paolacci S et al.

Journal of Clinical Medicine, 2020

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

Soblet J et al.

The Journal of Investigative Dermatology, 2017

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.

Castillo SD et al.

Science Translational Medicine, 2016

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

Zhou M et al.

Gene, 2015

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

Ye C et al.

Journal of Vascular Surgery, 2011

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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."