RFX4
regulatory factor X4
Summary
This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1412933622 | 12:106,995,098 | C/T | — | uncertain significance |
| rs138167459 | 12:106,995,109 | C/G | — | benign |
| rs113553192 | 12:106,995,127 | A/G | — | benign |
| rs146591557 | 12:107,002,616 | C/A | — | uncertain significance |
| rs10778496 | 12:107,012,425 | C/T | intron variant | — |
| rs560163526 | 12:107,016,546 | G/C | — | — |
| rs4964476 | 12:107,028,989 | C/T | intron variant | — |
| rs746465399 | 12:107,033,134 | C/T | — | uncertain significance |
| rs2040573753 | 12:107,033,142 | C/T | — | uncertain significance |
| rs386352356 | 12:107,033,154 | C/T | — | uncertain significance |
| rs4964183 | 12:107,042,463 | G/A | — | — |
| rs2542502741 | 12:107,048,049 | C/T | — | uncertain significance |
| rs2542502783 | 12:107,048,058 | C/T | — | uncertain significance |
| rs1344857675 | 12:107,048,068 | A/G | — | uncertain significance |
| rs2137399687 | 12:107,075,819 | C/T | — | uncertain significance |
| rs1922433 | 12:107,077,172 | A/G | intron variant | — |
| rs1922432 | 12:107,077,232 | G/A | intron variant | — |
| rs970724399 | 12:107,080,751 | C/T | — | uncertain significance |
| rs150288419 | 12:107,080,778 | C/T | — | uncertain significance |
| rs200353280 | 12:107,080,795 | C/T | — | uncertain significance |
| rs4346064 | 12:107,081,599 | C/A | upstream gene variant | — |
| rs4433659 | 12:107,082,496 | G/T | upstream gene variant | — |
| rs368504143 | 12:107,083,132 | A/C | — | uncertain significance |
| rs1922438 | 12:107,085,171 | C/G | intron variant | — |
| rs759576190 | 12:107,090,151 | G/A | — | uncertain significance |
| rs1395107685 | 12:107,090,178 | A/G | — | uncertain significance |
| rs1472123079 | 12:107,090,184 | G/A | — | uncertain significance |
| rs9971652 | 12:107,094,333 | A/C | intron variant | — |
| rs10861650 | 12:107,097,836 | A/T | — | — |
| rs10161520 | 12:107,101,685 | T/G | — | — |
| rs76703390 | 12:107,105,260 | C/T | — | uncertain significance |
| rs183495997 | 12:107,109,212 | C/T | — | uncertain significance |
| rs746261568 | 12:107,109,293 | G/A | — | uncertain significance |
| rs767385476 | 12:107,113,782 | G/A | — | uncertain significance |
| rs377579705 | 12:107,113,828 | T/C | — | uncertain significance |
| rs73391388 | 12:107,114,548 | G/A | — | benign |
| rs748112725 | 12:107,125,946 | G/A | — | uncertain significance |
| rs764502127 | 12:107,125,983 | G/A | — | uncertain significance |
| rs1407954656 | 12:107,125,989 | A/G | — | uncertain significance |
| rs754834543 | 12:107,126,001 | G/A | — | uncertain significance |
| rs201949313 | 12:107,126,711 | G/A | — | benign |
| rs2204886 | 12:107,128,090 | T/A | upstream gene variant | — |
| rs7972561 | 12:107,139,983 | T/A | intron variant | — |
| rs752755089 | 12:107,141,217 | G/A | — | uncertain significance |
| rs1239999077 | 12:107,141,233 | C/T | — | uncertain significance |
| rs768257685 | 12:107,141,296 | T/C | — | uncertain significance |
| rs10778506 | 12:107,143,260 | T/C | intron variant | — |
| rs12424114 | 12:107,144,328 | A/G | intron variant | — |
| rs758746104 | 12:107,144,438 | C/T | — | uncertain significance |
| rs755632372 | 12:107,144,462 | A/G | — | uncertain significance |
| rs144189511 | 12:107,144,501 | C/T | — | uncertain significance |
| rs140713236 | 12:107,144,529 | T/C | — | likely benign |
| rs2067615 | 12:107,149,422 | A/T | intron variant | — |
| rs201882106 | 12:107,155,059 | C/T | — | uncertain significance |
| rs760903717 | 12:107,155,078 | C/T | — | uncertain significance |
| rs17038766 | 12:107,155,131 | T/G | — | benign |
| rs151077715 | 12:107,155,162 | G/A | — | uncertain significance |
| rs2043205978 | 12:107,155,174 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.