RUNX3
RUNX family transcription factor 3
Summary
This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1476523757 | 1:25,228,662 | G/A | — | uncertain significance |
| rs868718243 | 1:25,228,713 | C/T | — | uncertain significance |
| rs766208403 | 1:25,228,714 | C/T | — | uncertain significance |
| rs573389125 | 1:25,228,739 | G/A | — | benign |
| rs142303780 | 1:25,228,747 | C/T | — | uncertain significance |
| rs760630862 | 1:25,228,767 | G/C | — | uncertain significance |
| rs773403827 | 1:25,228,947 | T/C | — | uncertain significance |
| rs947627767 | 1:25,228,977 | G/A | — | uncertain significance |
| rs777898130 | 1:25,229,001 | G/A | — | uncertain significance |
| rs2124237721 | 1:25,229,019 | C/T | — | uncertain significance |
| rs759924278 | 1:25,229,071 | G/C | — | uncertain significance |
| rs753201950 | 1:25,229,076 | C/T | — | uncertain significance |
| rs967395785 | 1:25,229,092 | T/C | — | likely benign |
| rs748083603 | 1:25,229,127 | G/A | — | uncertain significance |
| rs771649356 | 1:25,233,740 | C/T | — | likely benign |
| rs771588241 | 1:25,233,824 | G/A | — | uncertain significance |
| rs2236851 | 1:25,243,554 | C/T | intron variant | — |
| rs2236852 | 1:25,243,767 | A/T | — | — |
| rs754513916 | 1:25,245,756 | G/A | — | likely benign |
| rs10794666 | 1:25,250,830 | C/T | regulatory region variant | — |
| rs760805 | 1:25,251,923 | A/T | regulatory region variant | — |
| rs774077450 | 1:25,254,188 | C/T | — | uncertain significance |
| rs114583699 | 1:25,254,204 | G/A | — | benign |
| rs7517302 | 1:25,254,317 | C/T | — | benign |
| rs2525578423 | 1:25,256,157 | C/A | — | uncertain significance |
| rs763209861 | 1:25,256,236 | C/A | — | uncertain significance |
| rs1047567432 | 1:25,256,260 | C/A | — | uncertain significance |
| rs2525580349 | 1:25,256,308 | G/T | — | likely benign |
| rs71514255 | 1:25,256,444 | G/A | — | benign |
| rs1005734 | 1:25,262,022 | C/A | regulatory region variant | — |
| rs7551188 | 1:25,273,200 | T/C | intron variant | — |
| rs11249206 | 1:25,277,982 | C/G | — | — |
| rs60097574 | 1:25,288,832 | A/C | regulatory region variant | — |
| rs72657048 | 1:25,289,734 | C/G | regulatory region variant | — |
| rs143410594 | 1:25,291,006 | T/G | — | benign |
| rs6672420 | 1:25,291,010 | A/T | missense variant | benign |
| rs188468174 | 1:25,291,697 | C/T | regulatory region variant | — |
| rs7528484 | 1:25,292,668 | C/T | upstream gene variant | — |
| rs4265380 | 1:25,293,356 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.