NOP53
NOP53 ribosome biogenesis factor
Summary
Enables 5S rRNA binding activity; identical protein binding activity; and p53 binding activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; regulation of intracellular signal transduction; and regulation of primary metabolic process. Located in cytosol; nuclear lumen; and rDNA heterochromatin. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1351809298 | 19:48,248,821 | C/T | — | uncertain significance |
| rs749408034 | 19:48,248,823 | G/A | — | uncertain significance |
| rs376292602 | 19:48,248,849 | G/T | — | uncertain significance |
| rs2514180107 | 19:48,248,932 | G/C | — | uncertain significance |
| rs769884573 | 19:48,248,948 | G/C | — | uncertain significance |
| rs999681608 | 19:48,249,003 | T/C | — | uncertain significance |
| rs138693122 | 19:48,250,243 | C/G | — | uncertain significance |
| rs370153104 | 19:48,250,277 | C/G | — | uncertain significance |
| rs148660467 | 19:48,251,237 | A/G | downstream gene variant | — |
| rs79458115 | 19:48,253,454 | C/G | — | benign |
| rs376945750 | 19:48,253,504 | T/C | — | uncertain significance |
| rs779428264 | 19:48,253,534 | C/T | — | uncertain significance |
| rs11538670 | 19:48,254,172 | G/T | — | uncertain significance |
| rs754441438 | 19:48,254,179 | A/G | — | uncertain significance |
| rs1451127380 | 19:48,254,205 | C/T | — | uncertain significance |
| rs768761077 | 19:48,254,220 | T/C | — | uncertain significance |
| rs2514186478 | 19:48,254,248 | T/C | — | uncertain significance |
| rs561564168 | 19:48,254,253 | C/T | — | uncertain significance |
| rs748925558 | 19:48,254,344 | A/T | — | uncertain significance |
| rs149555718 | 19:48,254,792 | C/G | — | uncertain significance |
| rs200973335 | 19:48,254,846 | A/G | — | uncertain significance |
| rs139256610 | 19:48,255,778 | C/T | — | uncertain significance |
| rs2123675588 | 19:48,255,785 | A/G | — | uncertain significance |
| rs1399446817 | 19:48,255,787 | A/G | — | uncertain significance |
| rs759894596 | 19:48,255,803 | C/T | — | likely benign |
| rs756770937 | 19:48,255,811 | G/A | — | uncertain significance |
| rs140894234 | 19:48,255,813 | G/A | — | benign |
| rs202204556 | 19:48,255,821 | C/T | — | uncertain significance |
| rs768365200 | 19:48,255,842 | A/G | — | uncertain significance |
| rs192330726 | 19:48,257,807 | G/A | — | benign |
| rs201282982 | 19:48,257,880 | G/A | — | uncertain significance |
| rs904083317 | 19:48,257,883 | A/C | — | uncertain significance |
| rs1402232526 | 19:48,257,990 | G/A | — | uncertain significance |
| rs758927975 | 19:48,258,080 | G/A | — | uncertain significance |
| rs753630824 | 19:48,258,105 | A/C | — | uncertain significance |
| rs756258172 | 19:48,258,126 | G/A | — | uncertain significance |
| rs556948515 | 19:48,258,605 | C/A | — | likely benign |
| rs892666849 | 19:48,258,620 | G/A | — | uncertain significance |
| rs772991567 | 19:48,258,626 | C/T | — | uncertain significance |
| rs779018964 | 19:48,258,642 | G/A | — | uncertain significance |
| rs370561439 | 19:48,258,660 | G/A | — | uncertain significance |
| rs768272071 | 19:48,258,693 | G/A | — | uncertain significance |
| rs772758737 | 19:48,258,713 | C/T | — | uncertain significance |
| rs753897378 | 19:48,258,725 | C/T | — | uncertain significance |
| rs1005811039 | 19:48,258,734 | C/T | — | uncertain significance |
| rs1250736001 | 19:48,258,738 | G/A | — | uncertain significance |
| rs976569797 | 19:48,258,755 | A/G | — | uncertain significance |
| rs758816567 | 19:48,258,759 | C/T | — | uncertain significance |
| rs988121746 | 19:48,258,761 | C/G | — | uncertain significance |
| rs763134152 | 19:48,259,048 | C/T | — | uncertain significance |
| rs764675003 | 19:48,259,075 | T/G | — | uncertain significance |
| rs367817798 | 19:48,259,844 | G/T | — | uncertain significance |
| rs779344338 | 19:48,259,857 | G/A | — | uncertain significance |
| rs371370344 | 19:48,259,983 | G/A | — | uncertain significance |
| rs749617639 | 19:48,259,991 | C/T | — | uncertain significance |
| rs771411047 | 19:48,259,992 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.