RecName: Full=Brefeldin A-inhibited guanine nucleotide-exchange protei - Protein

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West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation. [J Med Genet. 2013]
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.
Banne E, Atawneh O, Henneke M, Brockmann K, Gärtner J, Elpeleg O, Edvardson S. J Med Genet. 2013 Nov; 50(11):772-5. Epub 2013 Jun 28.
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review. [Eur J Paediatr Neurol. 2013]
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.
Tanyalçin I, Verhelst H, Halley DJ, Vanderhasselt T, Villard L, Goizet C, Lissens W, Mancini GM, Jansen AC. Eur J Paediatr Neurol. 2013 Nov; 17(6):666-70. Epub 2013 Jun 4.
Brefeldin A-inhibited ADP-ribosylation factor activator BIG2 regulates cell migration via integrin β1 cycling and actin remodeling. [Proc Natl Acad Sci U S A. 2012]
Brefeldin A-inhibited ADP-ribosylation factor activator BIG2 regulates cell migration via integrin β1 cycling and actin remodeling.
Shen X, Li CC, Aponte AM, Shen RF, Billings EM, Moss J, Vaughan M. Proc Natl Acad Sci U S A. 2012 Sep 4; 109(36):14464-9. Epub 2012 Aug 20.

RefSeq genomic sequence
See the genomic reference sequence for the ARFGEF2 gene (NG_011490.2).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the ARFGEF2 gene.

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Q9Y6D5 [Domain Mapping of Disease Mut...]
Q9Y6D5
Domain Mapping of Disease Mutations
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RecName: Full=Brefeldin A-inhibited guanine nucleotide-exchange protein 2; Short...
RecName: Full=Brefeldin A-inhibited guanine nucleotide-exchange protein 2; Short=Brefeldin A-inhibited GEP 2; AltName: Full=ADP-ribosylation factor guanine nucleotide-exchange factor 2
gi|146329988|sp|Q9Y6D5.3|BIG2_HUMAN

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