AP2A1
adaptor related protein complex 2 subunit alpha 1
Summary
This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1035580819 | 19:50,285,324 | A/G | — | uncertain significance |
| rs775126925 | 19:50,285,944 | G/A | — | uncertain significance |
| rs2514363475 | 19:50,296,248 | G/T | — | uncertain significance |
| rs2514363485 | 19:50,296,249 | G/A | — | uncertain significance |
| rs773506704 | 19:50,296,258 | C/T | — | uncertain significance |
| rs556873406 | 19:50,296,266 | G/A | — | uncertain significance |
| rs200285849 | 19:50,298,935 | G/A | — | uncertain significance |
| rs1221253938 | 19:50,298,961 | G/T | — | uncertain significance |
| rs375354389 | 19:50,298,969 | G/A | — | uncertain significance |
| rs754456801 | 19:50,298,987 | C/T | — | uncertain significance |
| rs76403112 | 19:50,299,865 | C/T | intron variant | — |
| rs1174990216 | 19:50,302,080 | G/A | — | uncertain significance |
| rs902762307 | 19:50,302,203 | A/G | — | uncertain significance |
| rs761434079 | 19:50,302,682 | C/T | — | uncertain significance |
| rs201278183 | 19:50,302,713 | C/T | — | benign |
| rs781118779 | 19:50,302,908 | G/A | — | uncertain significance |
| rs754378520 | 19:50,302,971 | C/T | — | uncertain significance |
| rs1383068537 | 19:50,302,994 | A/G | — | uncertain significance |
| rs2514383434 | 19:50,304,230 | C/T | — | uncertain significance |
| rs1317519633 | 19:50,304,647 | C/T | — | likely benign |
| rs750709484 | 19:50,304,784 | G/A | — | uncertain significance |
| rs770753280 | 19:50,304,834 | G/A | — | uncertain significance |
| rs201008646 | 19:50,305,091 | G/C | — | uncertain significance |
| rs2073284818 | 19:50,305,114 | A/G | — | uncertain significance |
| rs2073285482 | 19:50,305,141 | A/G | — | uncertain significance |
| rs1332394752 | 19:50,305,298 | C/T | — | uncertain significance |
| rs2514387566 | 19:50,305,322 | A/G | — | uncertain significance |
| rs2514387625 | 19:50,305,334 | G/A | — | uncertain significance |
| rs754730470 | 19:50,305,347 | G/T | — | uncertain significance |
| rs1447414857 | 19:50,305,361 | C/T | — | uncertain significance |
| rs2514387846 | 19:50,305,387 | G/T | — | uncertain significance |
| rs373662953 | 19:50,305,811 | C/A | — | uncertain significance |
| rs754230824 | 19:50,305,813 | G/A | — | uncertain significance |
| rs200480269 | 19:50,305,818 | C/T | — | benign |
| rs370161023 | 19:50,305,822 | A/G | — | uncertain significance |
| rs745870176 | 19:50,305,823 | T/C | — | uncertain significance |
| rs776529479 | 19:50,305,843 | G/A | — | uncertain significance |
| rs542216541 | 19:50,306,213 | C/T | — | uncertain significance |
| rs759059517 | 19:50,306,223 | T/G | — | uncertain significance |
| rs371119628 | 19:50,306,232 | C/T | — | uncertain significance |
| rs1265305204 | 19:50,306,248 | T/G | — | uncertain significance |
| rs372547781 | 19:50,306,616 | C/T | — | uncertain significance |
| rs539590706 | 19:50,308,929 | C/T | — | uncertain significance |
| rs746968213 | 19:50,308,961 | A/T | — | uncertain significance |
| rs746056839 | 19:50,309,033 | C/T | — | uncertain significance |
| rs113074233 | 19:50,309,981 | G/A | — | uncertain significance |
| rs139365610 | 19:50,310,605 | C/T | missense variant | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.