AP2B1
adaptor related protein complex 2 subunit beta 1
Summary
The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs74505413 | 17:33,923,552 | T/G | — | — |
| rs11653357 | 17:33,923,607 | G/C | — | — |
| rs112789970 | 17:33,924,166 | A/G | upstream gene variant | — |
| rs225295 | 17:33,925,755 | A/G | upstream gene variant | — |
| rs190785260 | 17:33,926,686 | G/A | upstream gene variant | — |
| rs225289 | 17:33,928,945 | T/A | — | — |
| rs2509338160 | 17:33,932,810 | C/G | — | uncertain significance |
| rs2073654935 | 17:33,932,820 | G/T | — | not provided |
| rs773576208 | 17:33,935,314 | G/A | — | uncertain significance |
| rs11870399 | 17:33,937,874 | C/T | intron variant | — |
| rs16971217 | 17:33,944,055 | C/G | intron variant | — |
| rs760436832 | 17:33,951,474 | A/G | — | uncertain significance |
| rs141661445 | 17:33,951,487 | G/A | — | benign |
| rs11655803 | 17:33,952,696 | T/C | intron variant | — |
| rs1307364903 | 17:33,953,780 | C/T | — | uncertain significance |
| rs1037592 | 17:33,955,377 | T/A | intron variant | — |
| rs186558953 | 17:33,959,363 | A/C | intron variant | — |
| rs139492984 | 17:33,970,573 | A/T | intron variant | — |
| rs188611865 | 17:33,972,687 | G/A | intron variant | — |
| rs763799850 | 17:33,977,711 | A/G | — | uncertain significance |
| rs377040347 | 17:33,977,748 | A/G | — | uncertain significance |
| rs755219613 | 17:33,977,795 | A/G | — | uncertain significance |
| rs2011528 | 17:33,980,566 | C/T | intron variant | — |
| rs762331462 | 17:33,984,652 | A/C | — | uncertain significance |
| rs951303237 | 17:33,984,664 | C/G | — | uncertain significance |
| rs533229216 | 17:33,985,465 | C/T | — | — |
| rs1476214337 | 17:33,998,830 | C/T | — | uncertain significance |
| rs1431690845 | 17:33,998,884 | G/A | — | uncertain significance |
| rs145680535 | 17:33,998,909 | C/T | — | uncertain significance |
| rs2075650853 | 17:34,001,210 | G/A | — | uncertain significance |
| rs147829807 | 17:34,001,246 | A/G | — | uncertain significance |
| rs555131700 | 17:34,006,048 | G/C | — | — |
| rs112346425 | 17:34,007,811 | G/C | coding sequence variant | — |
| rs146309163 | 17:34,012,992 | C/T | upstream gene variant | — |
| rs226088 | 17:34,017,344 | A/T | — | — |
| rs2076420162 | 17:34,037,280 | A/G | — | uncertain significance |
| rs141653744 | 17:34,044,231 | T/A | — | uncertain significance |
| rs146388051 | 17:34,050,698 | G/C | — | uncertain significance |
| rs9649 | 17:34,050,934 | C/T | downstream gene variant | — |
| rs60014451 | 17:34,053,830 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.