PUS7L
pseudouridine synthase 7 like
Summary
Enables pseudouridine synthase activity. Involved in mRNA pseudouridine synthesis. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769791249 | 12:44,124,238 | G/A | — | uncertain significance |
| rs143864622 | 12:44,124,241 | C/T | — | uncertain significance |
| rs144025245 | 12:44,124,346 | G/A | — | uncertain significance |
| rs1944528273 | 12:44,124,363 | T/C | — | uncertain significance |
| rs377179643 | 12:44,124,394 | G/A | — | uncertain significance |
| rs765488669 | 12:44,124,456 | A/T | — | uncertain significance |
| rs200877231 | 12:44,125,510 | G/C | — | uncertain significance |
| rs2540286786 | 12:44,130,188 | C/T | — | uncertain significance |
| rs779403105 | 12:44,130,260 | T/C | — | uncertain significance |
| rs181203993 | 12:44,130,273 | T/C | — | uncertain significance |
| rs141654642 | 12:44,130,331 | C/T | — | uncertain significance |
| rs745605909 | 12:44,130,333 | T/C | — | uncertain significance |
| rs138341958 | 12:44,130,369 | C/T | — | uncertain significance |
| rs189799390 | 12:44,130,390 | G/A | — | uncertain significance |
| rs765877454 | 12:44,130,392 | T/G | — | uncertain significance |
| rs1027254010 | 12:44,130,456 | T/C | — | uncertain significance |
| rs12315211 | 12:44,133,668 | G/A | downstream gene variant | — |
| rs773878975 | 12:44,136,331 | G/A | — | uncertain significance |
| rs771726514 | 12:44,136,339 | T/A | — | uncertain significance |
| rs2540307386 | 12:44,136,353 | T/A | — | uncertain significance |
| rs1938164876 | 12:44,140,015 | T/A | — | uncertain significance |
| rs140009727 | 12:44,142,338 | G/A | — | uncertain significance |
| rs2540326791 | 12:44,142,358 | G/C | — | uncertain significance |
| rs145814117 | 12:44,142,400 | C/A | — | uncertain significance |
| rs757386970 | 12:44,148,190 | G/A | — | uncertain significance |
| rs147689391 | 12:44,148,216 | A/C | — | uncertain significance |
| rs745790601 | 12:44,148,234 | G/A | — | uncertain significance |
| rs751831105 | 12:44,148,263 | A/C | — | uncertain significance |
| rs138208104 | 12:44,148,283 | G/A | — | uncertain significance |
| rs753114811 | 12:44,148,342 | T/A | — | uncertain significance |
| rs1355111354 | 12:44,148,376 | T/C | — | uncertain significance |
| rs1406445680 | 12:44,148,507 | T/C | — | uncertain significance |
| rs201122908 | 12:44,148,531 | G/T | — | uncertain significance |
| rs781032884 | 12:44,148,532 | C/T | — | uncertain significance |
| rs748795228 | 12:44,148,559 | C/T | — | uncertain significance |
| rs751494170 | 12:44,148,645 | T/G | — | uncertain significance |
| rs142482082 | 12:44,148,693 | T/C | — | uncertain significance |
| rs201808152 | 12:44,148,715 | C/T | — | uncertain significance |
| rs752719418 | 12:44,148,717 | A/G | — | uncertain significance |
| rs1943109992 | 12:44,148,724 | C/T | — | uncertain significance |
| rs370195483 | 12:44,148,776 | C/G | — | uncertain significance |
| rs2540346631 | 12:44,148,798 | C/T | — | uncertain significance |
| rs373367602 | 12:44,148,799 | T/C | — | uncertain significance |
| rs776919496 | 12:44,148,817 | G/C | — | uncertain significance |
| rs370773456 | 12:44,148,889 | T/A | — | uncertain significance |
| rs199994161 | 12:44,148,898 | C/T | — | likely benign |
| rs1003711022 | 12:44,148,908 | A/C | — | uncertain significance |
| rs774234736 | 12:44,148,942 | A/G | — | uncertain significance |
| rs202236380 | 12:44,148,943 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.