ARFGAP1
ARF GTPase activating protein 1
Summary
The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs754566697 | 20:61,906,967 | A/C | — | uncertain significance |
| rs142416807 | 20:61,907,468 | A/G | — | uncertain significance |
| rs1306921494 | 20:61,907,869 | A/G | — | likely benign |
| rs1447932849 | 20:61,907,903 | C/T | — | uncertain significance |
| rs756677561 | 20:61,908,641 | C/T | — | uncertain significance |
| rs753369595 | 20:61,908,650 | G/T | — | uncertain significance |
| rs772389932 | 20:61,909,498 | C/T | — | uncertain significance |
| rs571988960 | 20:61,910,276 | T/A | — | uncertain significance |
| rs748362337 | 20:61,910,292 | C/T | — | uncertain significance |
| rs147166637 | 20:61,910,318 | C/T | — | uncertain significance |
| rs2067309030 | 20:61,910,334 | C/T | — | uncertain significance |
| rs539331372 | 20:61,912,673 | C/T | — | uncertain significance |
| rs747737702 | 20:61,912,674 | G/A | — | uncertain significance |
| rs371754239 | 20:61,914,193 | C/T | — | uncertain significance |
| rs368033888 | 20:61,916,219 | C/T | — | uncertain significance |
| rs369800568 | 20:61,916,234 | A/G | — | uncertain significance |
| rs748673929 | 20:61,916,264 | C/T | — | uncertain significance |
| rs201759881 | 20:61,917,040 | G/A | — | uncertain significance |
| rs1416859449 | 20:61,917,049 | C/A | — | uncertain significance |
| rs746605629 | 20:61,917,061 | C/T | — | uncertain significance |
| rs149861489 | 20:61,917,063 | A/G | — | uncertain significance |
| rs138789631 | 20:61,917,751 | G/A | — | uncertain significance |
| rs750198567 | 20:61,917,781 | G/A | — | uncertain significance |
| rs151256666 | 20:61,918,917 | C/T | — | uncertain significance |
| rs150388613 | 20:61,918,972 | A/G | — | uncertain significance |
| rs148414303 | 20:61,919,043 | G/A | — | uncertain significance |
| rs537002247 | 20:61,919,044 | A/C | — | uncertain significance |
| rs748858719 | 20:61,919,058 | G/A | — | uncertain significance |
| rs756653448 | 20:61,919,059 | C/T | — | uncertain significance |
| rs746990121 | 20:61,919,073 | G/A | — | uncertain significance |
| rs763100402 | 20:61,919,083 | G/T | — | uncertain significance |
| rs764663660 | 20:61,919,108 | C/G | — | likely benign |
| rs35608677 | 20:61,919,110 | C/T | — | uncertain significance |
| rs746830513 | 20:61,919,139 | G/A | — | uncertain significance |
| rs772307388 | 20:61,919,152 | G/A | — | uncertain significance |
| rs1008965738 | 20:61,919,154 | G/A | — | likely benign |
| rs764403746 | 20:61,919,176 | T/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.