ELK3
ETS transcription factor ELK3
Summary
This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4762284 | 12:96,612,762 | A/T | downstream gene variant | — |
| rs1951678165 | 12:96,617,355 | C/T | — | uncertain significance |
| rs11835157 | 12:96,634,205 | A/G | intron variant | — |
| rs374221949 | 12:96,640,780 | C/G | — | uncertain significance |
| rs745607623 | 12:96,640,815 | G/A | — | uncertain significance |
| rs371589438 | 12:96,640,841 | G/A | — | uncertain significance |
| rs140037312 | 12:96,640,857 | C/T | — | uncertain significance |
| rs751445876 | 12:96,641,030 | C/G | — | uncertain significance |
| rs372732576 | 12:96,641,112 | T/C | — | uncertain significance |
| rs750966796 | 12:96,641,118 | C/T | — | uncertain significance |
| rs118124881 | 12:96,641,121 | C/T | — | likely benign |
| rs764803238 | 12:96,641,162 | G/C | — | uncertain significance |
| rs144847499 | 12:96,641,177 | T/G | — | uncertain significance |
| rs28444655 | 12:96,641,188 | G/A | — | likely benign |
| rs151152137 | 12:96,641,319 | C/T | — | uncertain significance |
| rs115218295 | 12:96,641,344 | G/A | — | benign |
| rs536026245 | 12:96,641,418 | C/T | — | uncertain significance |
| rs776863935 | 12:96,641,432 | G/A | — | uncertain significance |
| rs769260115 | 12:96,641,436 | C/T | — | uncertain significance |
| rs1951870117 | 12:96,641,504 | A/G | — | uncertain significance |
| rs144750378 | 12:96,653,535 | G/A | — | benign |
| rs143649233 | 12:96,653,599 | G/A | — | uncertain significance |
| rs761757341 | 12:96,653,621 | C/T | — | uncertain significance |
| rs148117224 | 12:96,653,638 | G/A | — | benign |
| rs759391172 | 12:96,660,877 | T/G | — | uncertain significance |
| rs142850366 | 12:96,660,883 | C/A | — | uncertain significance |
| rs138930220 | 12:96,660,924 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.