GABRG3
gamma-aminobutyric acid type A receptor subunit gamma3
Summary
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs561732734 | 15:27,222,153 | A/G | — | uncertain significance |
| rs28399526 | 15:27,222,234 | G/A | — | likely benign |
| rs35752220 | 15:27,222,266 | A/G | — | benign |
| rs17561924 | 15:27,230,816 | T/A | — | — |
| rs116046250 | 15:27,231,950 | T/G | intron variant | — |
| rs79497756 | 15:27,271,912 | G/A | — | uncertain significance |
| rs371184362 | 15:27,271,946 | G/C | — | uncertain significance |
| rs79691322 | 15:27,271,976 | G/A | — | benign |
| rs58275387 | 15:27,323,185 | C/T | regulatory region variant | — |
| rs7179575 | 15:27,323,199 | T/A | — | — |
| rs208162 | 15:27,393,824 | A/C | — | — |
| rs968671 | 15:27,453,908 | A/G | upstream gene variant | — |
| rs8036270 | 15:27,463,874 | A/T | — | — |
| rs182892860 | 15:27,484,748 | A/G | intron variant | — |
| rs186922141 | 15:27,506,091 | G/A | intron variant | — |
| rs17137734 | 15:27,507,773 | C/T | intron variant | — |
| rs483352763 | 15:27,572,021 | A/G | — | uncertain significance |
| rs760375015 | 15:27,572,085 | C/T | — | uncertain significance |
| rs2503995802 | 15:27,572,177 | G/A | — | uncertain significance |
| rs12593021 | 15:27,651,824 | A/T | intron variant | — |
| rs74006954 | 15:27,712,644 | G/A | intron variant | — |
| rs1242012827 | 15:27,725,814 | A/C | — | uncertain significance |
| rs368580825 | 15:27,725,915 | A/G | — | uncertain significance |
| rs77771286 | 15:27,725,917 | C/T | — | benign |
| rs201602655 | 15:27,725,918 | G/A | — | likely benign |
| rs543369884 | 15:27,742,659 | G/A | — | — |
| rs1325383953 | 15:27,765,153 | A/G | — | uncertain significance |
| rs34130136 | 15:27,765,155 | T/C | — | benign |
| rs759698238 | 15:27,772,635 | C/G | — | uncertain significance |
| rs140679 | 15:27,772,676 | C/A | synonymous variant | — |
| rs2504233596 | 15:27,772,735 | C/G | — | uncertain significance |
| rs2504233600 | 15:27,772,738 | G/T | — | uncertain significance |
| rs774426380 | 15:27,772,753 | C/G | — | uncertain significance |
| rs201427468 | 15:27,773,109 | C/T | — | likely benign |
| rs1891450501 | 15:27,777,748 | C/T | — | pathogenic |
| rs199520183 | 15:27,777,774 | C/G | — | uncertain significance |
| rs759971914 | 15:27,777,785 | A/G | — | uncertain significance |
| rs1002520753 | 15:27,777,843 | A/T | — | uncertain significance |
| rs377572253 | 15:27,777,920 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.