ARFGAP3
ARF GTPase activating protein 3
Summary
The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs377540024 | 22:43,193,598 | G/C | — | uncertain significance |
| rs769244778 | 22:43,195,050 | T/C | — | uncertain significance |
| rs374696317 | 22:43,195,067 | T/C | — | uncertain significance |
| rs368934398 | 22:43,195,128 | C/T | — | uncertain significance |
| rs776224296 | 22:43,203,117 | G/A | — | uncertain significance |
| rs202174033 | 22:43,203,153 | C/T | — | uncertain significance |
| rs73176813 | 22:43,204,801 | A/G | — | benign |
| rs146332652 | 22:43,204,834 | T/G | — | uncertain significance |
| rs150358440 | 22:43,204,883 | G/C | — | uncertain significance |
| rs138028492 | 22:43,204,885 | C/G | — | uncertain significance |
| rs2519228648 | 22:43,204,892 | T/A | — | uncertain significance |
| rs746912031 | 22:43,206,920 | G/C | — | uncertain significance |
| rs191045561 | 22:43,213,173 | C/T | — | uncertain significance |
| rs199675575 | 22:43,213,215 | T/G | — | uncertain significance |
| rs141235894 | 22:43,213,217 | G/A | — | uncertain significance |
| rs372472921 | 22:43,213,218 | G/A | — | uncertain significance |
| rs2519240009 | 22:43,213,250 | G/A | — | uncertain significance |
| rs552164906 | 22:43,213,780 | T/C | — | uncertain significance |
| rs746663640 | 22:43,218,333 | G/A | — | likely benign |
| rs1416309485 | 22:43,218,344 | T/A | — | uncertain significance |
| rs765547979 | 22:43,219,677 | A/T | — | uncertain significance |
| rs142176423 | 22:43,227,561 | T/C | — | uncertain significance |
| rs1367676179 | 22:43,227,575 | G/C | — | uncertain significance |
| rs147803293 | 22:43,227,602 | G/T | — | uncertain significance |
| rs770521201 | 22:43,230,319 | T/C | — | uncertain significance |
| rs886453791 | 22:43,231,483 | T/A | — | uncertain significance |
| rs147252207 | 22:43,233,182 | T/C | intron variant | — |
| rs568608523 | 22:43,236,967 | C/T | — | uncertain significance |
| rs2517916108 | 22:43,236,974 | C/T | — | uncertain significance |
| rs146115643 | 22:43,237,014 | T/C | — | uncertain significance |
| rs374278949 | 22:43,243,617 | T/C | — | uncertain significance |
| rs1419390626 | 22:43,253,146 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.