ARFRP1
ARF related protein 1
Summary
The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs562526020 | 20:62,330,914 | C/T | — | — |
| rs140213848 | 20:62,331,814 | C/T | — | uncertain significance |
| rs760205392 | 20:62,331,820 | G/A | — | uncertain significance |
| rs774815023 | 20:62,331,847 | T/C | — | uncertain significance |
| rs144341687 | 20:62,331,875 | C/A | — | uncertain significance |
| rs948299995 | 20:62,331,990 | C/T | — | uncertain significance |
| rs35158527 | 20:62,332,025 | C/T | — | benign |
| rs750696744 | 20:62,332,026 | G/A | — | uncertain significance |
| rs781780125 | 20:62,332,053 | G/A | — | uncertain significance |
| rs2517288132 | 20:62,333,192 | T/C | — | uncertain significance |
| rs984275608 | 20:62,333,225 | C/T | — | uncertain significance |
| rs139547982 | 20:62,333,231 | G/A | — | uncertain significance |
| rs759998328 | 20:62,333,500 | T/C | — | uncertain significance |
| rs1758206 | 20:62,336,334 | T/A | — | — |
| rs2517369224 | 20:62,337,735 | C/T | — | uncertain significance |
| rs1338687817 | 20:62,337,762 | G/C | — | uncertain significance |
| rs777737516 | 20:62,338,048 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.