ELP3
elongator acetyltransferase complex subunit 3
Summary
Enables acetyltransferase activity and phosphorylase kinase regulator activity. Involved in regulation of transcription by RNA polymerase II and tRNA wobble uridine modification. Located in cytosol and nucleolus. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199785945 | 8:27,950,736 | G/A | — | uncertain significance |
| rs11544370 | 8:27,957,375 | C/A | — | benign |
| rs1316298912 | 8:27,957,407 | T/C | — | uncertain significance |
| rs7832075 | 8:27,962,213 | A/C | — | — |
| rs769798781 | 8:27,964,251 | T/A | — | uncertain significance |
| rs370455922 | 8:27,964,279 | G/A | — | uncertain significance |
| rs1811761175 | 8:27,965,449 | G/A | — | uncertain significance |
| rs2486740801 | 8:27,967,901 | A/C | — | uncertain significance |
| rs2486748408 | 8:27,970,672 | A/G | — | uncertain significance |
| rs3213998 | 8:27,970,960 | G/T | intron variant | — |
| rs59305957 | 8:27,971,716 | G/A | intron variant | — |
| rs370366449 | 8:27,987,090 | G/A | — | uncertain significance |
| rs1270830958 | 8:27,987,135 | T/C | — | uncertain significance |
| rs372074866 | 8:27,989,868 | A/G | — | uncertain significance |
| rs764954376 | 8:27,989,908 | T/G | — | not provided |
| rs2486813396 | 8:27,995,257 | C/T | — | uncertain significance |
| rs372519814 | 8:27,995,393 | T/C | — | uncertain significance |
| rs141713695 | 8:28,013,478 | G/A | — | uncertain significance |
| rs150536379 | 8:28,016,089 | G/A | — | uncertain significance |
| rs779733191 | 8:28,017,760 | G/C | — | uncertain significance |
| rs10086494 | 8:28,017,805 | C/T | — | benign |
| rs1563280302 | 8:28,017,870 | T/C | — | uncertain significance |
| rs367635310 | 8:28,017,872 | C/T | — | uncertain significance |
| rs190129217 | 8:28,017,873 | G/A | — | uncertain significance |
| rs774361661 | 8:28,017,878 | G/A | — | uncertain significance |
| rs781543066 | 8:28,019,574 | G/A | — | uncertain significance |
| rs143108863 | 8:28,020,041 | T/A | intron variant | — |
| rs2486992955 | 8:28,047,201 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.