Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.H246D
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WAS

NM_000377.3:p.H246D

Associated Papers

PI(3,4,5)P3-mediated Cdc42 activation regulates macrophage podosome assembly.

Qi Y et al.

Cellular and Molecular Life Sciences : Cmls, 2025

Tyrosine phosphorylation of Wiskott-Aldrich syndrome protein (WASP) by Hck regulates macrophage function.

Park H et al.

The Journal of Biological Chemistry, 2014

Modelling of human Wiskott-Aldrich syndrome protein mutants in zebrafish larvae using in vivo live imaging.

Jones RA et al.

Journal of Cell Science, 2013

Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration.

Worth AJ et al.

Blood, 2013

Regulation of podosome dynamics by WASp phosphorylation: implication in matrix degradation and chemotaxis in macrophages.

Dovas A et al.

Journal of Cell Science, 2009

Wiskott-Aldrich syndrome protein induces actin clustering without direct binding to Cdc42.

Kato M et al.

The Journal of Biological Chemistry, 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."