PBX4
PBX homeobox 4
Summary
This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1050467693 | 19:19,674,338 | C/T | — | uncertain significance |
| rs2513927695 | 19:19,674,397 | C/T | — | uncertain significance |
| rs377739787 | 19:19,675,770 | G/T | — | likely benign |
| rs139542458 | 19:19,675,795 | G/A | — | uncertain significance |
| rs769573106 | 19:19,675,805 | C/T | — | uncertain significance |
| rs550466530 | 19:19,675,810 | G/A | — | uncertain significance |
| rs150536132 | 19:19,679,560 | C/T | regulatory region variant | — |
| rs9304962 | 19:19,679,992 | G/T | — | — |
| rs372436008 | 19:19,680,272 | G/A | — | uncertain significance |
| rs1414890336 | 19:19,680,292 | T/C | — | uncertain significance |
| rs1323959579 | 19:19,680,302 | C/A | — | uncertain significance |
| rs778805645 | 19:19,680,320 | G/T | — | uncertain significance |
| rs199673541 | 19:19,680,364 | G/A | — | uncertain significance |
| rs757291376 | 19:19,680,386 | G/A | — | uncertain significance |
| rs369430064 | 19:19,680,388 | T/C | — | uncertain significance |
| rs8108659 | 19:19,680,738 | T/G | — | — |
| rs372535392 | 19:19,680,939 | C/T | — | uncertain significance |
| rs370372588 | 19:19,680,991 | C/T | — | uncertain significance |
| rs149342353 | 19:19,681,077 | T/C | — | uncertain significance |
| rs761605001 | 19:19,681,102 | G/A | — | uncertain significance |
| rs200628306 | 19:19,681,463 | A/G | — | uncertain significance |
| rs375963844 | 19:19,681,553 | T/C | — | uncertain significance |
| rs570261973 | 19:19,681,559 | C/T | — | uncertain significance |
| rs202136740 | 19:19,681,625 | T/C | — | uncertain significance |
| rs755156215 | 19:19,681,631 | G/A | — | uncertain significance |
| rs533864452 | 19:19,685,623 | G/C | — | — |
| rs10412176 | 19:19,689,164 | T/A | — | — |
| rs73004951 | 19:19,695,228 | C/T | downstream gene variant | — |
| rs12608729 | 19:19,700,552 | C/T | upstream gene variant | — |
| rs8104909 | 19:19,704,915 | A/G | — | — |
| rs756115893 | 19:19,710,137 | G/C | — | uncertain significance |
| rs73004962 | 19:19,713,069 | A/C | — | — |
| rs35545554 | 19:19,715,613 | A/G | upstream gene variant | — |
| rs1968047 | 19:19,721,061 | G/T | — | — |
| rs12610185 | 19:19,721,722 | G/A | regulatory region variant | — |
| rs12610191 | 19:19,721,976 | C/T | downstream gene variant | — |
| rs766401982 | 19:19,729,360 | T/G | — | uncertain significance |
| rs938731988 | 19:19,729,398 | G/C | — | uncertain significance |
| rs1048709240 | 19:19,729,429 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.