PPP1R13B
protein phosphatase 1 regulatory subunit 13B
Summary
This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]
Known Variants95 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs548424756 | 14:104,201,510 | C/T | — | uncertain significance |
| rs775532323 | 14:104,202,371 | C/T | — | uncertain significance |
| rs750675019 | 14:104,202,373 | G/T | — | uncertain significance |
| rs141544257 | 14:104,202,419 | C/T | — | uncertain significance |
| rs769684446 | 14:104,202,429 | T/C | — | uncertain significance |
| rs200754439 | 14:104,202,448 | G/A | — | likely benign |
| rs372584216 | 14:104,204,117 | G/A | — | uncertain significance |
| rs200187506 | 14:104,204,182 | G/A | — | benign |
| rs550304193 | 14:104,205,040 | A/G | — | uncertain significance |
| rs1054323431 | 14:104,205,074 | T/C | — | uncertain significance |
| rs536152556 | 14:104,205,089 | C/T | — | uncertain significance |
| rs7152309 | 14:104,205,090 | G/A | — | benign |
| rs773911225 | 14:104,205,095 | C/T | — | uncertain significance |
| rs17292804 | 14:104,205,123 | G/A | synonymous variant | — |
| rs2084179532 | 14:104,205,287 | A/G | — | uncertain significance |
| rs373141354 | 14:104,205,312 | C/T | — | uncertain significance |
| rs746156294 | 14:104,205,354 | G/A | — | uncertain significance |
| rs2510280575 | 14:104,205,357 | T/C | — | uncertain significance |
| rs35098798 | 14:104,206,222 | C/T | — | benign |
| rs367810676 | 14:104,206,231 | G/A | — | uncertain significance |
| rs756555688 | 14:104,206,232 | G/A | — | uncertain significance |
| rs371609004 | 14:104,206,256 | T/A | — | uncertain significance |
| rs376962916 | 14:104,206,257 | C/G | — | uncertain significance |
| rs746630022 | 14:104,206,264 | G/A | — | uncertain significance |
| rs200606453 | 14:104,206,306 | G/A | — | uncertain significance |
| rs1476839417 | 14:104,206,325 | T/C | — | uncertain significance |
| rs760263628 | 14:104,206,355 | C/T | — | uncertain significance |
| rs760696403 | 14:104,206,358 | G/A | — | uncertain significance |
| rs1274623702 | 14:104,206,378 | T/C | — | uncertain significance |
| rs1166172863 | 14:104,206,430 | C/T | — | uncertain significance |
| rs1260360960 | 14:104,206,445 | C/T | — | uncertain significance |
| rs375262577 | 14:104,206,482 | A/G | — | likely benign |
| rs371121086 | 14:104,206,544 | T/C | — | uncertain significance |
| rs2084220093 | 14:104,206,567 | C/T | — | uncertain significance |
| rs149001440 | 14:104,206,599 | G/A | — | benign |
| rs1217406412 | 14:104,206,601 | C/T | — | uncertain significance |
| rs987462498 | 14:104,206,622 | T/C | — | uncertain significance |
| rs376044714 | 14:104,206,784 | G/A | — | uncertain significance |
| rs2510286427 | 14:104,206,797 | A/T | — | likely benign |
| rs2510286437 | 14:104,206,799 | C/T | — | uncertain significance |
| rs764234340 | 14:104,206,855 | G/A | — | uncertain significance |
| rs114723653 | 14:104,206,869 | G/A | — | benign |
| rs200407398 | 14:104,206,906 | G/A | — | uncertain significance |
| rs779672911 | 14:104,208,157 | G/A | — | uncertain significance |
| rs371929651 | 14:104,208,165 | G/A | — | uncertain significance |
| rs780811665 | 14:104,208,265 | A/C | — | uncertain significance |
| rs187707451 | 14:104,208,267 | C/T | — | uncertain significance |
| rs143920315 | 14:104,208,286 | G/T | — | benign |
| rs200888668 | 14:104,208,290 | A/G | — | benign |
| rs201252881 | 14:104,208,379 | C/G | — | uncertain significance |
| rs1241663373 | 14:104,208,400 | G/T | — | uncertain significance |
| rs2510292107 | 14:104,208,416 | C/A | — | uncertain significance |
| rs1374428237 | 14:104,208,439 | G/A | — | uncertain significance |
| rs199912800 | 14:104,208,447 | G/A | — | uncertain significance |
| rs1280611943 | 14:104,208,466 | G/T | — | uncertain significance |
| rs756810483 | 14:104,208,594 | G/A | — | uncertain significance |
| rs1474412279 | 14:104,208,600 | G/T | — | uncertain significance |
| rs1044852936 | 14:104,209,001 | G/A | — | uncertain significance |
| rs749856218 | 14:104,209,070 | C/A | — | uncertain significance |
| rs79177579 | 14:104,212,721 | C/A | — | uncertain significance |
| rs756318773 | 14:104,212,749 | T/G | — | uncertain significance |
| rs187960496 | 14:104,212,817 | G/C | — | uncertain significance |
| rs766708977 | 14:104,212,841 | G/A | — | uncertain significance |
| rs768274701 | 14:104,216,154 | G/A | — | uncertain significance |
| rs373887711 | 14:104,216,218 | T/A | — | uncertain significance |
| rs1261642150 | 14:104,216,219 | T/A | — | uncertain significance |
| rs1405432286 | 14:104,216,241 | A/G | — | uncertain significance |
| rs1476964458 | 14:104,219,374 | G/A | — | uncertain significance |
| rs7141928 | 14:104,219,949 | C/T | intron variant | — |
| rs1237929699 | 14:104,220,512 | G/T | — | uncertain significance |
| rs140395624 | 14:104,220,530 | T/C | — | likely benign |
| rs770242805 | 14:104,220,544 | C/T | — | uncertain significance |
| rs201621603 | 14:104,220,547 | C/T | — | uncertain significance |
| rs372394507 | 14:104,224,069 | T/C | — | uncertain significance |
| rs531260354 | 14:104,224,076 | G/A | — | uncertain significance |
| rs12890837 | 14:104,244,583 | C/T | intron variant | — |
| rs370745103 | 14:104,245,096 | G/A | — | uncertain significance |
| rs2510511113 | 14:104,245,122 | T/C | — | uncertain significance |
| rs753972222 | 14:104,245,134 | C/T | — | uncertain significance |
| rs751160937 | 14:104,245,153 | G/A | — | uncertain significance |
| rs199815035 | 14:104,251,150 | T/C | — | likely benign |
| rs543964072 | 14:104,251,191 | C/G | — | uncertain significance |
| rs863223358 | 14:104,251,194 | C/T | — | benign |
| rs1315638041 | 14:104,251,215 | T/C | — | uncertain significance |
| rs1254224361 | 14:104,251,228 | T/C | — | uncertain significance |
| rs10873538 | 14:104,255,569 | T/G | intron variant | — |
| rs34066659 | 14:104,263,427 | A/T | — | — |
| rs375639291 | 14:104,263,779 | C/T | — | uncertain significance |
| rs12893623 | 14:104,290,813 | A/G | intron variant | — |
| rs115675799 | 14:104,292,187 | T/C | — | — |
| rs12891399 | 14:104,293,533 | T/C | intron variant | — |
| rs12890430 | 14:104,293,534 | G/A | intron variant | — |
| rs12879529 | 14:104,307,554 | G/A | intron variant | — |
| rs10083370 | 14:104,314,182 | G/A | regulatory region variant | — |
| rs11160767 | 14:104,316,733 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.