TPRKB
TP53RK binding protein
Summary
Enables protein kinase binding activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 5. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12713794 | 2:73,956,846 | A/T | — | — |
| rs12997568 | 2:73,956,881 | T/C | — | benign |
| rs2466035832 | 2:73,957,115 | T/A | — | uncertain significance |
| rs7210 | 2:73,957,124 | A/G | — | benign |
| rs2466036009 | 2:73,957,135 | C/T | — | uncertain significance |
| rs749784962 | 2:73,957,145 | G/A | — | likely benign |
| rs2466036225 | 2:73,957,146 | A/G | — | uncertain significance |
| rs1233885358 | 2:73,957,152 | T/C | — | pathogenic |
| rs754783287 | 2:73,957,153 | A/T | — | likely pathogenic |
| rs13003035 | 2:73,957,227 | T/A | — | benign |
| rs1553433412 | 2:73,957,721 | A/G | — | conflicting classifications of pathogenicity |
| rs1180522719 | 2:73,957,722 | G/C | — | uncertain significance |
| rs376455799 | 2:73,957,723 | A/G | — | likely benign |
| rs144417465 | 2:73,957,738 | C/T | — | likely benign |
| rs774449039 | 2:73,957,755 | G/C | — | likely benign |
| rs371941818 | 2:73,957,759 | T/C | — | uncertain significance |
| rs374540032 | 2:73,957,800 | T/C | — | uncertain significance |
| rs149388000 | 2:73,957,801 | G/A | — | likely benign |
| rs377749247 | 2:73,957,806 | C/G | — | uncertain significance |
| rs769029364 | 2:73,957,842 | A/T | — | uncertain significance |
| rs202183143 | 2:73,957,851 | A/G | — | likely benign |
| rs148515124 | 2:73,957,854 | C/T | — | uncertain significance |
| rs147434102 | 2:73,959,309 | T/C | — | conflicting classifications of pathogenicity |
| rs1308091356 | 2:73,959,372 | G/C | — | uncertain significance |
| rs749359016 | 2:73,959,394 | T/C | — | uncertain significance |
| rs1334200376 | 2:73,959,406 | C/A | — | uncertain significance |
| rs145872059 | 2:73,959,409 | C/T | — | uncertain significance |
| rs2421556 | 2:73,960,381 | G/T | — | — |
| rs780348427 | 2:73,961,561 | T/C | — | uncertain significance |
| rs772184234 | 2:73,961,574 | T/G | — | likely benign |
| rs751970441 | 2:73,961,620 | G/A | — | uncertain significance |
| rs996672742 | 2:73,961,656 | C/G | — | uncertain significance |
| rs1181710439 | 2:73,961,682 | A/C | — | uncertain significance |
| rs1438811085 | 2:73,961,691 | C/G | — | uncertain significance |
| rs185773423 | 2:73,961,842 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.