PML
PML nuclear body scaffold
Summary
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants65 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1482238182 | 15:74,287,173 | G/T | — | uncertain significance |
| rs28504405 | 15:74,287,235 | A/C | — | benign |
| rs779135665 | 15:74,287,274 | C/T | — | uncertain significance |
| rs12911485 | 15:74,288,047 | G/T | regulatory region variant | — |
| rs752972084 | 15:74,290,465 | T/G | — | uncertain significance |
| rs758491320 | 15:74,290,580 | T/C | — | uncertain significance |
| rs780737061 | 15:74,290,752 | C/T | — | likely benign |
| rs35291318 | 15:74,290,802 | C/A | — | uncertain significance |
| rs8039584 | 15:74,305,966 | C/T | regulatory region variant | — |
| rs1178944366 | 15:74,315,198 | T/A | — | uncertain significance |
| rs1438297871 | 15:74,315,342 | C/T | — | uncertain significance |
| rs1156972442 | 15:74,315,348 | T/C | — | uncertain significance |
| rs17849259 | 15:74,315,358 | C/T | — | benign |
| rs2505462198 | 15:74,315,468 | T/C | — | uncertain significance |
| rs1444561442 | 15:74,315,471 | A/T | — | uncertain significance |
| rs140050477 | 15:74,315,485 | C/T | — | uncertain significance |
| rs139917470 | 15:74,315,510 | G/A | — | likely benign |
| rs2070921580 | 15:74,315,537 | A/G | — | uncertain significance |
| rs762157300 | 15:74,315,640 | C/G | — | likely benign |
| rs556426526 | 15:74,315,715 | G/A | — | likely benign |
| rs775280848 | 15:74,315,740 | C/A | — | uncertain significance |
| rs2505476704 | 15:74,317,234 | C/T | — | uncertain significance |
| rs760545579 | 15:74,317,259 | C/T | — | likely benign |
| rs746160914 | 15:74,324,937 | G/A | — | uncertain significance |
| rs746784735 | 15:74,325,004 | C/T | — | uncertain significance |
| rs763529879 | 15:74,325,605 | C/T | — | uncertain significance |
| rs2505532486 | 15:74,325,617 | G/A | — | uncertain significance |
| rs11855663 | 15:74,325,743 | G/A | — | benign |
| rs746515572 | 15:74,326,827 | G/A | — | likely benign |
| rs78340702 | 15:74,327,556 | C/T | — | likely benign |
| rs112272650 | 15:74,327,684 | G/A | — | benign |
| rs140216915 | 15:74,327,704 | C/T | — | likely benign |
| rs75056290 | 15:74,327,819 | C/T | — | benign |
| rs148636537 | 15:74,327,900 | G/A | — | likely benign |
| rs150969738 | 15:74,328,098 | G/A | — | benign |
| rs743580 | 15:74,328,116 | A/G | — | benign |
| rs743581 | 15:74,328,141 | T/G | — | benign |
| rs743582 | 15:74,328,206 | G/C | — | likely benign |
| rs111658103 | 15:74,328,338 | G/A | — | likely benign |
| rs9479 | 15:74,328,576 | A/G | — | benign |
| rs7183908 | 15:74,329,193 | T/A | — | — |
| rs148332748 | 15:74,335,367 | G/C | — | uncertain significance |
| rs1234689753 | 15:74,336,610 | G/A | — | uncertain significance |
| rs5742915 | 15:74,336,633 | T/G | missense variant | — |
| rs2141898138 | 15:74,336,646 | A/G | — | uncertain significance |
| rs771816629 | 15:74,336,657 | G/A | — | uncertain significance |
| rs1252366505 | 15:74,336,660 | T/C | — | uncertain significance |
| rs752691619 | 15:74,336,681 | C/T | — | uncertain significance |
| rs61751123 | 15:74,336,725 | T/C | — | benign |
| rs752841570 | 15:74,336,756 | A/C | — | uncertain significance |
| rs376941681 | 15:74,336,814 | C/T | — | uncertain significance |
| rs111398700 | 15:74,336,874 | A/G | — | likely benign |
| rs2505586885 | 15:74,336,876 | C/T | — | uncertain significance |
| rs1335019509 | 15:74,336,892 | A/G | — | uncertain significance |
| rs745678082 | 15:74,336,918 | G/A | — | uncertain significance |
| rs1174666365 | 15:74,336,931 | T/A | — | uncertain significance |
| rs780746013 | 15:74,336,964 | G/C | — | uncertain significance |
| rs151129618 | 15:74,336,983 | G/A | — | benign |
| rs61751124 | 15:74,337,073 | C/G | — | likely benign |
| rs374210403 | 15:74,337,075 | G/A | — | uncertain significance |
| rs1037329656 | 15:74,337,137 | C/T | — | uncertain significance |
| rs141646523 | 15:74,337,209 | G/A | — | likely benign |
| rs762214399 | 15:74,337,215 | C/G | — | uncertain significance |
| rs200030114 | 15:74,337,218 | G/T | — | uncertain significance |
| rs199966678 | 15:74,337,315 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.