YJU2
YJU2 splicing factor homolog
Summary
Predicted to enable metal ion binding activity. Predicted to be involved in RNA splicing and negative regulation of DNA damage response, signal transduction by p53 class mediator. Part of U2-type catalytic step 1 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs748678607 | 19:4,249,253 | C/T | — | uncertain significance |
| rs747901969 | 19:4,251,121 | C/T | — | uncertain significance |
| rs552664253 | 19:4,252,153 | T/C | — | — |
| rs150087617 | 19:4,254,465 | G/C | — | uncertain significance |
| rs10409421 | 19:4,254,752 | A/G | intron variant | — |
| rs56075200 | 19:4,255,456 | G/A | intron variant | — |
| rs1029984191 | 19:4,258,297 | A/G | — | uncertain significance |
| rs1470614975 | 19:4,258,316 | C/A | — | uncertain significance |
| rs556366109 | 19:4,258,344 | G/T | — | uncertain significance |
| rs373508102 | 19:4,258,369 | C/T | — | uncertain significance |
| rs747734244 | 19:4,258,381 | G/A | — | uncertain significance |
| rs141808616 | 19:4,258,384 | G/A | — | likely benign |
| rs764286816 | 19:4,258,415 | G/C | — | uncertain significance |
| rs762196273 | 19:4,258,419 | G/A | — | uncertain significance |
| rs144079143 | 19:4,262,017 | G/A | — | uncertain significance |
| rs8106603 | 19:4,262,036 | C/T | — | benign |
| rs151025034 | 19:4,262,062 | C/T | — | uncertain significance |
| rs771887449 | 19:4,262,083 | G/A | — | uncertain significance |
| rs372057203 | 19:4,267,705 | G/A | — | uncertain significance |
| rs1052024869 | 19:4,267,724 | C/G | — | uncertain significance |
| rs2512636350 | 19:4,267,729 | C/T | — | uncertain significance |
| rs770551051 | 19:4,267,744 | G/A | — | uncertain significance |
| rs771810170 | 19:4,267,757 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.