Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.Y897S
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TEK

NM_000459.5:p.Y897S

Associated Papers

Venous Malformations: Unraveling Latest Mechanisms and Bridging Gaps in Targeted Therapy Development.

Jiang X et al.

International Journal of Biological Sciences, 2025

Strain-release alkylation of Asp12 enables mutant selective targeting of K-Ras-G12D.

Zheng Q et al.

Nature Chemical Biology, 2024

38443470 (PubMed )
Supplement: 41589_2024_1565_MOESM1_ESM.pdf

Obscurin Rho GEF domains are phosphorylated by MST-family kinases but do not exhibit nucleotide exchange factor activity towards Rho GTPases in vitro.

Koch D et al.

Plos One, 2023

37079638 (PubMed )
Supplement: pone.0284453.s020.pdf

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

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

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

Du Z et al.

Journal of Vascular Surgery. Venous and Lymphatic Disorders, 2017

A selective chemical probe for exploring the role of CDK8 and CDK19 in human disease.

Dale T et al.

Nature Chemical Biology, 2015

26502155 (PubMed )
Supplement: NIHMS65392-supplement-SuppInfo.pdf

Common and specific effects of TIE2 mutations causing venous malformations.

Nätynki M et al.

Human Molecular Genetics, 2015

PhosphoSitePlus, 2014: mutations, PTMs and recalibrations.

Hornbeck PV et al.

Nucleic Acids Research, 2015

[Haplotype analysis for mucocutaneous venous malformations in a Chinese Han ethnic family].

Shu W et al.

Yi Chuan = Hereditas, 2012

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

Wouters V et al.

European Journal of Human Genetics : Ejhg, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

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

Limaye N et al.

Nature Genetics, 2009

Genetic causes of vascular malformations.

Brouillard P et al.

Human Molecular Genetics, 2007

Vascular malformations: localized defects in vascular morphogenesis.

Brouillard P et al.

Clinical Genetics, 2003

Structure of the Tie2 RTK domain: self-inhibition by the nucleotide binding loop, activation loop, and C-terminal tail.

Shewchuk LM et al.

Structure (london, England : 1993), 2000

Allelic and locus heterogeneity in inherited venous malformations.

Calvert JT et al.

Human Molecular Genetics, 1999

Vascular anomalies of the head and neck: a review of genetics.

Yadav P et al.

Seminars in Ophthalmology, 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."