Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.R918L
Back to variants list

TEK

NM_000459.5:p.R918L

Associated Papers

Blue Rubber Bleb Nevus Syndrome: A Rare Case of Gastrointestinal Hemorrhage Necessitating Bowel Resection.

Shewmake CN et al.

The American Surgeon, 2023

High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.

Hernandez PV et al.

American Journal of Medical Genetics. Part A, 2023

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

Nozawa A et al.

Journal of Human Genetics, 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

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

Soblet J et al.

The Journal of Investigative Dermatology, 2017

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."