ELP6
elongator acetyltransferase complex subunit 6
Summary
Predicted to be involved in positive regulation of cell migration. Predicted to act upstream of or within several processes, including autophagosome maturation; gene expression; and homeostasis of number of retina cells. Located in cytosol and nucleus. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs758926474 | 3:47,537,654 | C/T | — | likely benign |
| rs750714055 | 3:47,537,662 | G/A | — | uncertain significance |
| rs76414810 | 3:47,539,767 | C/T | — | benign |
| rs1268767190 | 3:47,539,853 | C/T | — | uncertain significance |
| rs149565751 | 3:47,539,870 | T/C | — | uncertain significance |
| rs2546542140 | 3:47,539,871 | T/C | — | uncertain significance |
| rs1708542110 | 3:47,539,880 | C/T | — | uncertain significance |
| rs199767528 | 3:47,539,883 | C/G | — | uncertain significance |
| rs62617110 | 3:47,539,885 | G/C | — | uncertain significance |
| rs7651194 | 3:47,540,917 | G/A | upstream gene variant | — |
| rs181991988 | 3:47,543,248 | C/T | synonymous variant | — |
| rs1387178847 | 3:47,543,252 | T/C | — | likely benign |
| rs753825070 | 3:47,543,255 | G/A | — | uncertain significance |
| rs757210202 | 3:47,543,261 | C/G | — | uncertain significance |
| rs745668948 | 3:47,543,262 | G/A | — | uncertain significance |
| rs2108086458 | 3:47,543,312 | A/C | — | likely pathogenic |
| rs2546570593 | 3:47,545,877 | G/C | — | uncertain significance |
| rs201253001 | 3:47,545,916 | C/T | — | uncertain significance |
| rs150166753 | 3:47,545,923 | T/C | — | likely benign |
| rs1448823728 | 3:47,545,935 | C/T | — | uncertain significance |
| rs781610982 | 3:47,551,685 | C/T | — | uncertain significance |
| rs778563813 | 3:47,552,667 | A/G | — | uncertain significance |
| rs760743342 | 3:47,555,049 | G/C | — | uncertain significance |
| rs765666121 | 3:47,555,077 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.