GABBR2
gamma-aminobutyric acid type B receptor subunit 2
Summary
The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]
Known Variants817 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1588081632 | 9:101,050,960 | A/G | — | uncertain significance |
| rs71491759 | 9:101,052,556 | T/G | — | benign |
| rs10985754 | 9:101,052,558 | T/G | — | likely benign |
| rs768698963 | 9:101,052,559 | T/G | — | benign |
| rs77626796 | 9:101,052,561 | T/G | — | benign |
| rs28634003 | 9:101,052,566 | T/G | — | benign |
| rs2304391 | 9:101,052,858 | T/C | — | benign |
| rs370717972 | 9:101,052,859 | C/T | — | benign |
| rs759983229 | 9:101,052,864 | C/T | — | likely benign |
| rs1830287587 | 9:101,052,869 | C/T | — | likely benign |
| rs752078517 | 9:101,052,875 | C/T | — | likely benign |
| rs760225121 | 9:101,052,888 | C/T | — | uncertain significance |
| rs1238294679 | 9:101,052,889 | G/A | — | uncertain significance |
| rs1012965260 | 9:101,052,892 | A/G | — | uncertain significance |
| rs374827661 | 9:101,052,906 | T/C | — | likely benign |
| rs901968471 | 9:101,052,915 | C/T | — | uncertain significance |
| rs528154834 | 9:101,052,916 | G/A | — | likely benign |
| rs767723805 | 9:101,052,920 | G/C | — | uncertain significance |
| rs758345055 | 9:101,052,925 | C/T | — | benign |
| rs548342323 | 9:101,052,926 | G/A | — | likely benign |
| rs1830288897 | 9:101,052,927 | G/A | — | likely benign |
| rs199985270 | 9:101,052,937 | C/G | — | uncertain significance |
| rs756193791 | 9:101,052,938 | G/A | — | likely benign |
| rs1554687394 | 9:101,052,949 | C/A | — | uncertain significance |
| rs2491166579 | 9:101,052,951 | C/T | — | likely benign |
| rs1830289381 | 9:101,052,955 | T/C | — | conflicting classifications of pathogenicity |
| rs749468798 | 9:101,052,958 | C/T | — | uncertain significance |
| rs1410290745 | 9:101,052,959 | G/A | — | likely benign |
| rs771303727 | 9:101,052,964 | C/T | — | likely benign |
| rs368173040 | 9:101,052,965 | G/A | — | benign |
| rs772523931 | 9:101,052,971 | G/A | — | likely benign |
| rs1307135354 | 9:101,052,973 | T/C | — | uncertain significance |
| rs2131331668 | 9:101,052,986 | G/A | — | likely benign |
| rs776455748 | 9:101,052,989 | G/A | — | likely benign |
| rs2491166917 | 9:101,053,010 | G/C | — | likely benign |
| rs765127236 | 9:101,053,013 | G/A | — | likely benign |
| rs1287904056 | 9:101,053,020 | C/T | — | uncertain significance |
| rs1182840615 | 9:101,053,021 | G/A | — | uncertain significance |
| rs138830482 | 9:101,053,022 | A/G | — | likely benign |
| rs1430192079 | 9:101,053,023 | C/T | — | uncertain significance |
| rs2131331775 | 9:101,053,025 | C/T | — | likely benign |
| rs371566642 | 9:101,053,028 | G/A | — | likely benign |
| rs1361369900 | 9:101,053,043 | G/T | — | likely benign |
| rs143123897 | 9:101,053,044 | A/G | — | benign |
| rs1260879279 | 9:101,053,049 | G/T | — | likely benign |
| rs56377484 | 9:101,053,051 | G/A | — | likely benign |
| rs5010004 | 9:101,053,076 | C/G | — | benign |
| rs1897949 | 9:101,053,087 | A/G | — | benign |
| rs41273923 | 9:101,053,123 | A/G | — | benign |
| rs73490762 | 9:101,054,457 | T/C | intron variant | — |
| rs116655774 | 9:101,055,963 | G/A | — | likely benign |
| rs10818743 | 9:101,056,009 | G/T | — | benign |
| rs201847926 | 9:101,056,044 | A/G | — | benign |
| rs2491174554 | 9:101,056,047 | C/T | — | likely benign |
| rs201116009 | 9:101,056,057 | A/C | — | benign |
| rs764167824 | 9:101,056,059 | G/T | — | likely benign |
| rs2491174691 | 9:101,056,065 | A/C | — | uncertain significance |
| rs753988643 | 9:101,056,081 | T/A | — | likely benign |
| rs968176642 | 9:101,056,084 | A/G | — | likely benign |
| rs992384149 | 9:101,056,091 | A/G | — | uncertain significance |
| rs79226810 | 9:101,056,092 | T/C | — | likely benign |
| rs141289569 | 9:101,056,096 | A/G | — | likely benign |
| rs758721783 | 9:101,056,101 | T/C | — | uncertain significance |
| rs2491174918 | 9:101,056,104 | A/T | — | uncertain significance |
| rs1363876623 | 9:101,056,106 | G/T | — | uncertain significance |
| rs34701111 | 9:101,056,108 | T/C | — | benign |
| rs368856308 | 9:101,056,109 | C/T | — | likely benign |
| rs2491175023 | 9:101,056,114 | G/A | — | likely benign |
| rs10985765 | 9:101,056,122 | T/C | — | benign |
| rs1588084564 | 9:101,056,125 | T/C | — | uncertain significance |
| rs769395669 | 9:101,056,132 | C/T | — | likely benign |
| rs1830340552 | 9:101,056,141 | G/A | — | likely benign |
| rs891861059 | 9:101,056,143 | G/A | — | uncertain significance |
| rs2131336279 | 9:101,056,151 | T/C | — | uncertain significance |
| rs79773606 | 9:101,056,152 | C/G | — | likely benign |
| rs762613895 | 9:101,056,153 | G/A | — | likely benign |
| rs2491175270 | 9:101,056,156 | G/T | — | likely benign |
| rs2491175286 | 9:101,056,159 | A/G | — | likely benign |
| rs1830340895 | 9:101,056,160 | T/C | — | uncertain significance |
| rs547813684 | 9:101,056,165 | T/A | — | conflicting classifications of pathogenicity |
| rs2491175326 | 9:101,056,166 | A/C | — | uncertain significance |
| rs1830341096 | 9:101,056,172 | G/A | — | likely benign |
| rs1051260334 | 9:101,056,173 | C/G | — | uncertain significance |
| rs759249460 | 9:101,056,174 | C/T | — | likely benign |
| rs2491175452 | 9:101,056,183 | A/G | — | likely benign |
| rs1449186952 | 9:101,056,190 | T/G | — | likely benign |
| rs1477853214 | 9:101,056,191 | G/A | — | likely benign |
| rs2491175500 | 9:101,056,198 | A/C | — | likely benign |
| rs2491175523 | 9:101,056,201 | A/G | — | likely benign |
| rs1230835801 | 9:101,056,203 | T/C | — | likely benign |
| rs111814975 | 9:101,056,425 | G/A | — | likely benign |
| rs140348083 | 9:101,061,369 | C/T | — | likely benign |
| rs1350511953 | 9:101,061,488 | G/A | — | likely benign |
| rs376889851 | 9:101,061,490 | G/A | — | likely benign |
| rs2491188120 | 9:101,061,493 | C/T | — | likely benign |
| rs1441348656 | 9:101,061,497 | C/A | — | likely benign |
| rs371247282 | 9:101,061,499 | C/T | — | likely benign |
| rs1830429438 | 9:101,061,502 | T/C | — | likely benign |
| rs760559434 | 9:101,061,503 | T/C | — | uncertain significance |
| rs765315548 | 9:101,061,519 | G/A | — | likely benign |
Showing 100 of 817 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.