Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.S917I
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TEK

NM_000459.5:p.S917I

Associated Papers

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

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

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

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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."