BTBD2
BTB domain containing 2
Summary
The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138402442 | 19:1,986,556 | G/A | — | likely benign |
| rs376198116 | 19:1,986,645 | G/A | — | uncertain significance |
| rs754489664 | 19:1,986,858 | C/T | — | uncertain significance |
| rs2512223583 | 19:1,986,870 | C/T | — | uncertain significance |
| rs149233510 | 19:1,986,894 | C/T | — | uncertain significance |
| rs369330763 | 19:1,986,897 | G/A | — | uncertain significance |
| rs2512223674 | 19:1,986,908 | G/A | — | uncertain significance |
| rs147352494 | 19:1,986,918 | C/T | — | uncertain significance |
| rs771686850 | 19:1,987,592 | G/C | — | uncertain significance |
| rs775195556 | 19:1,987,595 | C/T | — | uncertain significance |
| rs146791419 | 19:1,987,679 | G/A | — | uncertain significance |
| rs554362987 | 19:1,990,128 | C/T | — | uncertain significance |
| rs766935152 | 19:1,990,150 | G/A | — | uncertain significance |
| rs1455939179 | 19:1,990,158 | C/T | — | uncertain significance |
| rs141214800 | 19:1,990,174 | C/T | — | uncertain significance |
| rs146922665 | 19:1,990,753 | G/A | — | likely benign |
| rs2512231365 | 19:1,990,768 | G/C | — | uncertain significance |
| rs143448816 | 19:1,990,769 | T/C | — | uncertain significance |
| rs139660333 | 19:1,993,033 | T/C | — | uncertain significance |
| rs149287382 | 19:1,993,101 | G/A | — | uncertain significance |
| rs1438437676 | 19:1,993,125 | G/T | — | uncertain significance |
| rs1610045 | 19:1,997,363 | G/A | — | likely benign |
| rs144229360 | 19:1,997,438 | G/A | — | likely benign |
| rs2512239971 | 19:1,997,448 | A/G | — | uncertain significance |
| rs141725644 | 19:1,997,470 | G/A | — | likely benign |
| rs34568594 | 19:2,003,300 | G/A | intron variant | — |
| rs7252328 | 19:2,003,785 | A/G | — | — |
| rs113734985 | 19:2,004,737 | A/G | intron variant | — |
| rs8110061 | 19:2,004,965 | C/T | intron variant | — |
| rs8112800 | 19:2,005,607 | G/C | intron variant | — |
| rs35180712 | 19:2,006,269 | C/G | intron variant | — |
| rs35053053 | 19:2,006,925 | C/T | intron variant | — |
| rs1223450066 | 19:2,015,360 | C/T | — | uncertain significance |
| rs145823008 | 19:2,015,402 | G/A | — | uncertain significance |
| rs762879823 | 19:2,015,430 | C/G | — | uncertain significance |
| rs1311409535 | 19:2,015,431 | T/A | — | uncertain significance |
| rs372144379 | 19:2,015,435 | G/A | — | uncertain significance |
| rs2511996854 | 19:2,015,450 | C/T | — | uncertain significance |
| rs1361104820 | 19:2,015,452 | C/G | — | uncertain significance |
| rs2145661043 | 19:2,015,461 | G/A | — | uncertain significance |
| rs1316782647 | 19:2,015,467 | T/G | — | uncertain significance |
| rs1419976629 | 19:2,015,508 | G/A | — | likely benign |
| rs1186870210 | 19:2,015,531 | T/G | — | uncertain significance |
| rs1213128407 | 19:2,015,543 | C/A | — | uncertain significance |
| rs1241407367 | 19:2,015,593 | G/A | — | uncertain significance |
| rs2016526622 | 19:2,015,639 | T/A | — | uncertain significance |
| rs992604117 | 19:2,015,678 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.