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ARFGEF2 - ADP ribosylation factor guanine nucleotide exchange factor 2
- Synonym(s) : BIG2, Brefeldin A-inhibited guanine nucleotide-exchange protein 2
- Previous symbols and names : ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
- Type : gene with protein product
- Chromosomal location : 20q13.13
- OMIM: 605371
- HGNC: 15853
- UniProtKB: Q9Y6D5
- Genatlas: ARFGEF2
- GenCC: ARFGEF2
- Ensembl: ENSG00000124198
- IUPHAR-DB: -
- Reactome: Q9Y6D5
- LOVD: ARFGEF2
Diseases list
- Disease-causing germline mutation(s) in Periventricular nodular heterotopia
ORPHA:98892

Additional information
Patient-centred resources for this gene
Research activities on this gene
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