SPOP
speckle type BTB/POZ protein
Summary
This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Known Variants134 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1383872445 | 17:47,677,764 | T/G | — | likely benign |
| rs2543773447 | 17:47,677,844 | T/C | — | uncertain significance |
| rs2543773504 | 17:47,677,850 | T/A | — | likely benign |
| rs2543773558 | 17:47,677,865 | C/A | — | uncertain significance |
| rs2543778524 | 17:47,679,261 | G/A | — | uncertain significance |
| rs142247620 | 17:47,679,304 | G/A | — | likely benign |
| rs371674237 | 17:47,679,312 | C/T | — | likely benign |
| rs727502792 | 17:47,679,320 | T/A | — | uncertain significance |
| rs376811676 | 17:47,684,670 | G/A | — | uncertain significance |
| rs6504618 | 17:47,686,189 | A/G | intron variant | — |
| rs1313171285 | 17:47,688,678 | C/T | — | conflicting classifications of pathogenicity |
| rs2543814136 | 17:47,688,718 | C/A | — | uncertain significance |
| rs568477610 | 17:47,688,723 | G/C | — | uncertain significance |
| rs2143193766 | 17:47,688,735 | C/A | — | uncertain significance |
| rs2543814297 | 17:47,688,752 | T/G | — | uncertain significance |
| rs1260807436 | 17:47,688,792 | T/C | — | uncertain significance |
| rs1597921035 | 17:47,695,272 | C/A | — | uncertain significance |
| rs1305745002 | 17:47,695,278 | T/C | — | uncertain significance |
| rs1783574197 | 17:47,695,284 | T/C | — | uncertain significance |
| rs2072149162 | 17:47,696,292 | A/C | — | uncertain significance |
| rs2072149513 | 17:47,696,304 | T/A | — | uncertain significance |
| rs2072149581 | 17:47,696,305 | C/T | — | uncertain significance |
| rs2072150119 | 17:47,696,315 | C/G | — | uncertain significance |
| rs2072150446 | 17:47,696,326 | A/C | — | uncertain significance |
| rs2072151063 | 17:47,696,338 | C/A | — | uncertain significance |
| rs2072151207 | 17:47,696,345 | C/T | — | conflicting classifications of pathogenicity |
| rs368288966 | 17:47,696,349 | G/C | — | uncertain significance |
| rs2072151628 | 17:47,696,350 | A/C | — | uncertain significance |
| rs2072151724 | 17:47,696,351 | A/G | — | uncertain significance |
| rs2072151912 | 17:47,696,353 | A/G | — | uncertain significance |
| rs2072152068 | 17:47,696,354 | G/A | — | uncertain significance |
| rs2072152226 | 17:47,696,357 | T/A | — | uncertain significance |
| rs2072152352 | 17:47,696,359 | A/T | — | uncertain significance |
| rs2072152422 | 17:47,696,360 | G/A | — | uncertain significance |
| rs2072152576 | 17:47,696,367 | A/C | — | uncertain significance |
| rs2072152764 | 17:47,696,369 | C/T | — | uncertain significance |
| rs2072152852 | 17:47,696,370 | A/C | — | uncertain significance |
| rs2072153488 | 17:47,696,393 | C/T | — | pathogenic |
| rs1369267775 | 17:47,696,395 | A/C | — | uncertain significance |
| rs2072153847 | 17:47,696,396 | A/T | — | uncertain significance |
| rs2072153959 | 17:47,696,399 | G/A | — | uncertain significance |
| rs2072154143 | 17:47,696,403 | A/C | — | uncertain significance |
| rs2072154226 | 17:47,696,404 | T/G | — | uncertain significance |
| rs2072154471 | 17:47,696,407 | C/T | — | uncertain significance |
| rs888419251 | 17:47,696,409 | A/C | — | uncertain significance |
| rs2072154717 | 17:47,696,410 | C/T | — | uncertain significance |
| rs968974699 | 17:47,696,411 | G/A | — | pathogenic |
| rs755810590 | 17:47,696,415 | G/T | — | uncertain significance |
| rs2143263036 | 17:47,696,418 | T/A | — | uncertain significance |
| rs2072155115 | 17:47,696,422 | T/C | — | uncertain significance |
| rs2072155256 | 17:47,696,423 | T/G | — | uncertain significance |
| rs193921065 | 17:47,696,424 | G/C | missense variant | uncertain significance |
| rs1057519967 | 17:47,696,425 | A/G | missense variant | — |
| rs1057519966 | 17:47,696,426 | A/C | missense variant | uncertain significance |
| rs2072155694 | 17:47,696,428 | C/A | — | likely pathogenic |
| rs1057519970 | 17:47,696,430 | C/A | missense variant | — |
| rs1057519969 | 17:47,696,431 | C/G | missense variant | — |
| rs1057519968 | 17:47,696,432 | A/G | missense variant | uncertain significance |
| rs2072156166 | 17:47,696,435 | C/A | — | uncertain significance |
| rs2072156282 | 17:47,696,437 | T/G | — | uncertain significance |
| rs1464021387 | 17:47,696,439 | G/A | — | uncertain significance |
| rs2072156576 | 17:47,696,440 | C/A | — | uncertain significance |
| rs2072156652 | 17:47,696,442 | T/C | — | uncertain significance |
| rs2072156869 | 17:47,696,446 | A/C | — | uncertain significance |
| rs2072156953 | 17:47,696,448 | A/T | — | uncertain significance |
| rs2072157028 | 17:47,696,450 | A/G | — | uncertain significance |
| rs2143264356 | 17:47,696,456 | A/T | — | uncertain significance |
| rs910219777 | 17:47,696,457 | T/G | — | uncertain significance |
| rs2072157304 | 17:47,696,458 | G/T | — | uncertain significance |
| rs2072157379 | 17:47,696,461 | C/T | — | pathogenic |
| rs2072157444 | 17:47,696,462 | G/A | — | uncertain significance |
| rs2072157795 | 17:47,696,469 | C/T | — | uncertain significance |
| rs2072157936 | 17:47,696,471 | C/A | — | uncertain significance |
| rs2072158257 | 17:47,696,477 | T/G | — | uncertain significance |
| rs778981076 | 17:47,696,481 | G/A | — | uncertain significance |
| rs1378635756 | 17:47,696,487 | A/C | — | uncertain significance |
| rs2072158937 | 17:47,696,489 | A/C | — | uncertain significance |
| rs2072159085 | 17:47,696,491 | G/C | — | uncertain significance |
| rs772247872 | 17:47,696,502 | G/A | — | uncertain significance |
| rs575257727 | 17:47,696,508 | G/C | — | uncertain significance |
| rs2072159591 | 17:47,696,509 | C/A | — | uncertain significance |
| rs2072159923 | 17:47,696,518 | G/T | — | uncertain significance |
| rs572136913 | 17:47,696,521 | C/A | — | uncertain significance |
| rs2143268856 | 17:47,696,596 | C/T | — | likely pathogenic |
| rs1399114184 | 17:47,696,600 | A/C | — | likely benign |
| rs2072162818 | 17:47,696,602 | C/G | — | uncertain significance |
| rs2543844684 | 17:47,696,604 | T/A | — | uncertain significance |
| rs2072162929 | 17:47,696,605 | T/A | — | uncertain significance |
| rs758435270 | 17:47,696,606 | G/C | — | uncertain significance |
| rs2072163144 | 17:47,696,611 | C/G | — | uncertain significance |
| rs2072163247 | 17:47,696,614 | C/T | — | uncertain significance |
| rs2072163398 | 17:47,696,621 | G/A | — | uncertain significance |
| rs2072163482 | 17:47,696,623 | C/A | — | uncertain significance |
| rs2072163730 | 17:47,696,631 | A/G | — | uncertain significance |
| rs2143269972 | 17:47,696,636 | G/T | — | likely pathogenic |
| rs2072164119 | 17:47,696,640 | T/G | — | uncertain significance |
| rs1057519965 | 17:47,696,642 | G/C | missense variant | — |
| rs193920894 | 17:47,696,643 | A/C | — | conflicting classifications of pathogenicity |
| rs1057519964 | 17:47,696,644 | A/C | missense variant | — |
| rs2143270444 | 17:47,696,647 | T/G | — | uncertain significance |
Showing 100 of 134 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.