rs2498894678
This variant is located in the ARF3 gene.
▶ClinVar annotation
Intellectual disability;Atrophy/Degeneration affecting the central nervous system;Microcephaly;Dystonic disorder;Scoliosis
View on ClinVar →About ARF3
ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. [provided by RefSeq, Oct 2022]
View all ARF3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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