Varaico: Literature-Extracted Genetic Variants

Gene:CDC42
Variant:p.F28L
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CDC42

NM_001791.4:p.F28L

Associated Papers

The brain-specific splice variant of the CDC42 GTPase works together with the kinase ACK to downregulate the EGF receptor in promoting neurogenesis.

Endo M et al.

The Journal of Biological Chemistry, 2022

The two splice variant forms of Cdc42 exert distinct and essential functions in neurogenesis.

Endo M et al.

The Journal of Biological Chemistry, 2020

Rho GTPases, their post-translational modifications, disease-associated mutations and pharmacological inhibitors.

Olson MF

Small Gtpases, 2018

CDC42 is required for epicardial and pro-epicardial development by mediating FGF receptor trafficking to the plasma membrane.

Li J et al.

Development (cambridge, England), 2017

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.

Krauthammer M et al.

Nature Genetics, 2012

22842228 (PubMed )
Supplement: NIHMS390374-supplement-1.pdf

C-terminal di-arginine motif of Cdc42 protein is essential for binding to phosphatidylinositol 4,5-bisphosphate-containing membranes and inducing cellular transformation.

Johnson JL et al.

The Journal of Biological Chemistry, 2012

Glioblastoma motility occurs in the absence of actin polymer.

Panopoulos A et al.

Molecular Biology of the Cell, 2011

Backbone dynamics of an oncogenic mutant of Cdc42Hs shows increased flexibility at the nucleotide-binding site.

Adams PD et al.

Biochemistry, 2004

The role of Rho GTPases in disease development.

Boettner B et al.

Gene, 2002

Cdc42: An essential Rho-type GTPase controlling eukaryotic cell polarity.

Johnson DI

Microbiology and Molecular Biology Reviews : Mmbr, 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."