ARF3
ARF GTPase 3
Summary
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]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs181097040 | 12:49,329,563 | G/A | downstream gene variant | — |
| rs1940205418 | 12:49,332,824 | C/T | — | uncertain significance |
| rs1360040098 | 12:49,332,870 | C/T | — | uncertain significance |
| rs2498892982 | 12:49,333,443 | T/C | — | pathogenic |
| rs2498893389 | 12:49,333,545 | C/T | — | pathogenic |
| rs2228417 | 12:49,333,799 | G/A | — | benign |
| rs2498894678 | 12:49,333,839 | T/A | — | pathogenic |
| rs2498897350 | 12:49,334,740 | G/A | — | conflicting classifications of pathogenicity |
| rs2498897479 | 12:49,334,784 | G/T | — | pathogenic |
| rs2498897604 | 12:49,334,823 | C/T | — | uncertain significance |
| rs1940246962 | 12:49,334,845 | G/C | — | likely pathogenic |
| rs10875899 | 12:49,342,074 | A/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.