PUS10
pseudouridine synthase 10
Summary
Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs762670188 | 2:61,169,559 | C/A | — | uncertain significance |
| rs2466445250 | 2:61,172,181 | A/G | — | uncertain significance |
| rs201759127 | 2:61,175,187 | T/C | — | uncertain significance |
| rs770325223 | 2:61,175,228 | C/G | — | likely benign |
| rs141037128 | 2:61,175,259 | C/T | — | uncertain significance |
| rs144588759 | 2:61,181,090 | G/A | — | uncertain significance |
| rs141963314 | 2:61,181,252 | G/A | — | uncertain significance |
| rs563556086 | 2:61,181,279 | T/C | — | uncertain significance |
| rs1448850034 | 2:61,181,293 | C/T | — | uncertain significance |
| rs4643526 | 2:61,184,651 | G/A | intron variant | — |
| rs13003464 | 2:61,186,829 | A/G | intron variant | — |
| rs772733477 | 2:61,187,580 | G/A | — | uncertain significance |
| rs2466697704 | 2:61,187,652 | C/T | — | uncertain significance |
| rs761852702 | 2:61,188,640 | C/T | — | uncertain significance |
| rs756640293 | 2:61,188,646 | A/G | — | uncertain significance |
| rs756794402 | 2:61,188,663 | T/C | — | uncertain significance |
| rs769900196 | 2:61,188,670 | G/A | — | uncertain significance |
| rs1307870626 | 2:61,194,647 | A/G | — | uncertain significance |
| rs1676664842 | 2:61,198,686 | C/T | — | uncertain significance |
| rs7608910 | 2:61,204,856 | A/G | intron variant | — |
| rs4560096 | 2:61,204,917 | T/G | intron variant | — |
| rs10188217 | 2:61,217,542 | T/C | intron variant | — |
| rs10181042 | 2:61,224,259 | C/T | upstream gene variant | — |
| rs2564113 | 2:61,230,988 | T/A | downstream gene variant | — |
| rs2467304792 | 2:61,233,711 | G/T | — | uncertain significance |
| rs2467304878 | 2:61,233,714 | G/A | — | uncertain significance |
| rs372498476 | 2:61,235,971 | C/A | — | uncertain significance |
| rs138733334 | 2:61,235,981 | G/C | — | uncertain significance |
| rs1573520814 | 2:61,235,993 | T/C | — | uncertain significance |
| rs761913554 | 2:61,236,077 | G/A | — | uncertain significance |
| rs13026685 | 2:61,237,739 | C/T | — | — |
| rs141777838 | 2:61,238,944 | A/T | — | uncertain significance |
| rs372163151 | 2:61,238,964 | C/T | — | uncertain significance |
| rs147445494 | 2:61,238,973 | G/A | — | uncertain significance |
| rs759445088 | 2:61,238,976 | T/C | — | likely benign |
| rs1187760803 | 2:61,238,987 | C/G | — | uncertain significance |
| rs6727926 | 2:61,240,536 | A/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.