Varaico: Literature-Extracted Genetic Variants

Gene:ARFGEF2
Variant:p.E738K
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ARFGEF2

NM_006420.3:p.E738K

Associated Papers

Novel C-terminal motif within Sec7 domain of guanine nucleotide exchange factors regulates ADP-ribosylation factor (ARF) binding and activation.

Lowery J et al.

The Journal of Biological Chemistry, 2011

Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia.

Lu J et al.

The Journal of Comparative Neurology, 2006

BIG2, a guanine nucleotide exchange factor for ADP-ribosylation factors: its localization to recycling endosomes and implication in the endosome integrity.

Shin HW et al.

Molecular Biology of the Cell, 2004

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.

Sheen VL et al.

Nature Genetics, 2004

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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."