Varaico: Literature-Extracted Genetic Variants

Gene:ITGA2B
Variant:p.T562N
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ITGA2B

NM_000419.5:p.T562N

Associated Papers

C560Rβ3 caused platelet integrin αII b β3 to bind fibrinogen continuously, but resulted in a severe bleeding syndrome and increased murine mortality.

Fang J et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Overexpression of the partially activated alpha(IIb)beta3D723H integrin salt bridge mutant downregulates RhoA activity and induces microtubule-dependent proplatelet-like extensions in Chinese hamster ovary cells.

Schaffner-Reckinger E et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

CHO cells expressing the high affinity alpha(IIb)beta3 T562N integrin demonstrate enhanced adhesion under shear.

Legendre P et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting cysteine residues in integrin beta3.

Nair S et al.

Thrombosis and Haemostasis, 2002

A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype.

Ruiz C et al.

Blood, 2001

A mutation in the extracellular cysteine-rich repeat region of the beta3 subunit activates integrins alphaIIbbeta3 and alphaVbeta3.

Kashiwagi H et al.

Blood, 1999

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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."