ABTB1
ankyrin repeat and BTB domain containing 1
Summary
This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143132342 | 3:127,393,271 | C/T | — | uncertain significance |
| rs142908756 | 3:127,393,275 | A/T | — | uncertain significance |
| rs756842905 | 3:127,393,290 | C/T | — | uncertain significance |
| rs1576442940 | 3:127,393,418 | G/T | — | uncertain significance |
| rs199986435 | 3:127,393,425 | C/T | — | uncertain significance |
| rs374859435 | 3:127,393,431 | C/T | — | uncertain significance |
| rs376091643 | 3:127,394,870 | G/A | — | uncertain significance |
| rs569664905 | 3:127,394,880 | C/G | — | uncertain significance |
| rs201937228 | 3:127,394,885 | G/A | — | uncertain significance |
| rs150548380 | 3:127,394,894 | G/A | — | uncertain significance |
| rs759031570 | 3:127,394,914 | G/T | — | uncertain significance |
| rs139518030 | 3:127,394,944 | G/A | — | uncertain significance |
| rs199717490 | 3:127,395,129 | G/A | — | uncertain significance |
| rs370432755 | 3:127,395,135 | A/G | — | uncertain significance |
| rs375653991 | 3:127,395,174 | G/A | — | uncertain significance |
| rs149260862 | 3:127,395,182 | C/T | — | uncertain significance |
| rs751487305 | 3:127,395,263 | A/G | — | uncertain significance |
| rs1437971651 | 3:127,395,385 | C/G | — | uncertain significance |
| rs1576446421 | 3:127,395,400 | G/T | — | uncertain significance |
| rs779240937 | 3:127,395,827 | G/A | — | uncertain significance |
| rs1376902949 | 3:127,395,864 | A/G | — | uncertain significance |
| rs374710196 | 3:127,395,887 | A/G | — | uncertain significance |
| rs754432582 | 3:127,395,896 | G/A | — | uncertain significance |
| rs537024678 | 3:127,395,913 | G/C | — | uncertain significance |
| rs1192887836 | 3:127,396,013 | G/C | — | uncertain significance |
| rs373888032 | 3:127,396,065 | C/T | — | uncertain significance |
| rs771839204 | 3:127,396,103 | G/A | — | uncertain significance |
| rs138982766 | 3:127,396,542 | C/G | — | uncertain significance |
| rs2075019666 | 3:127,396,546 | T/C | — | uncertain significance |
| rs146406722 | 3:127,396,581 | C/A | — | uncertain significance |
| rs761815130 | 3:127,396,583 | A/G | — | uncertain significance |
| rs2075022075 | 3:127,396,600 | G/A | — | uncertain significance |
| rs749535722 | 3:127,396,636 | C/G | — | uncertain significance |
| rs148709628 | 3:127,396,639 | G/A | — | uncertain significance |
| rs376690383 | 3:127,396,642 | G/A | — | likely benign |
| rs9859117 | 3:127,397,553 | G/A | — | — |
| rs765463378 | 3:127,398,832 | C/G | — | uncertain significance |
| rs554345628 | 3:127,398,861 | G/A | — | likely benign |
| rs376513209 | 3:127,398,864 | G/A | — | uncertain significance |
| rs141376733 | 3:127,398,919 | A/G | — | uncertain significance |
| rs960554076 | 3:127,399,133 | G/A | — | uncertain significance |
| rs2473413773 | 3:127,399,175 | C/G | — | uncertain significance |
| rs1272111028 | 3:127,399,212 | G/A | — | uncertain significance |
| rs978280510 | 3:127,399,253 | G/A | — | uncertain significance |
| rs563433175 | 3:127,399,268 | C/T | — | uncertain significance |
| rs199613465 | 3:127,399,269 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.