ACKR3
atypical chemokine receptor 3
Summary
This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs756275061 | 2:237,489,200 | C/T | — | uncertain significance |
| rs904251117 | 2:237,489,244 | A/G | — | uncertain significance |
| rs200114828 | 2:237,489,245 | C/T | — | uncertain significance |
| rs769053538 | 2:237,489,274 | G/A | — | uncertain significance |
| rs114269199 | 2:237,489,298 | G/C | — | conflicting classifications of pathogenicity |
| rs200840916 | 2:237,489,338 | A/G | — | uncertain significance |
| rs142866883 | 2:237,489,421 | G/A | — | uncertain significance |
| rs144999866 | 2:237,489,455 | C/T | — | uncertain significance |
| rs1375627463 | 2:237,489,485 | T/A | — | uncertain significance |
| rs745896531 | 2:237,489,517 | T/G | — | uncertain significance |
| rs778711298 | 2:237,489,592 | C/T | — | uncertain significance |
| rs1397895268 | 2:237,489,683 | A/G | — | uncertain significance |
| rs144225712 | 2:237,489,711 | C/T | — | benign |
| rs146961395 | 2:237,489,738 | C/T | — | benign |
| rs1691519298 | 2:237,489,740 | G/T | — | uncertain significance |
| rs746780134 | 2:237,489,787 | A/G | — | likely benign |
| rs1285452155 | 2:237,489,794 | C/G | — | uncertain significance |
| rs35095494 | 2:237,489,796 | G/A | — | benign |
| rs1691522514 | 2:237,489,807 | C/G | — | uncertain significance |
| rs201643093 | 2:237,489,830 | C/T | — | uncertain significance |
| rs200582844 | 2:237,489,880 | G/A | — | pathogenic |
| rs201423512 | 2:237,489,970 | C/T | — | uncertain significance |
| rs756008000 | 2:237,489,994 | G/A | — | uncertain significance |
| rs1045475305 | 2:237,490,028 | A/C | — | uncertain significance |
| rs1296904478 | 2:237,490,063 | A/C | — | uncertain significance |
| rs755913112 | 2:237,490,099 | A/G | — | uncertain significance |
| rs1691535270 | 2:237,490,111 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.