PRPF18
pre-mRNA processing factor 18
Summary
Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs377591129 | 10:13,639,462 | A/G | — | uncertain significance |
| rs528286982 | 10:13,639,509 | G/A | — | uncertain significance |
| rs749253086 | 10:13,642,332 | C/T | — | uncertain significance |
| rs2478118 | 10:13,650,032 | C/T | upstream gene variant | — |
| rs2541266889 | 10:13,652,151 | T/C | — | uncertain significance |
| rs532728674 | 10:13,653,616 | C/T | — | uncertain significance |
| rs2541319103 | 10:13,653,673 | A/G | — | uncertain significance |
| rs763672046 | 10:13,655,753 | G/A | — | uncertain significance |
| rs769643891 | 10:13,656,042 | A/G | — | uncertain significance |
| rs7089227 | 10:13,667,731 | G/T | intron variant | — |
| rs2541786181 | 10:13,672,290 | A/G | — | uncertain significance |
| rs2541786865 | 10:13,672,329 | A/G | — | uncertain significance |
| rs11258487 | 10:13,674,107 | C/G | — | — |
| rs56161216 | 10:13,688,798 | A/G | 3 prime UTR variant | — |
| rs115167930 | 10:13,689,353 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.