POU5F1B
POU class 5 homeobox 1B
Summary
This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7014346 | 8:128,424,792 | A/C | — | — |
| rs871135 | 8:128,426,393 | G/C | — | — |
| rs4871789 | 8:128,428,061 | A/T | — | — |
| rs751627167 | 8:128,428,184 | G/C | — | uncertain significance |
| rs1385260212 | 8:128,428,272 | G/C | — | uncertain significance |
| rs2536569563 | 8:128,428,279 | G/T | — | uncertain significance |
| rs761899644 | 8:128,428,323 | G/C | — | uncertain significance |
| rs778540580 | 8:128,428,376 | G/A | — | uncertain significance |
| rs552351247 | 8:128,428,415 | G/A | — | uncertain significance |
| rs771322061 | 8:128,428,452 | C/G | — | uncertain significance |
| rs776833446 | 8:128,428,455 | G/A | — | uncertain significance |
| rs182632506 | 8:128,428,466 | C/G | — | uncertain significance |
| rs769082871 | 8:128,428,532 | G/T | — | uncertain significance |
| rs774674067 | 8:128,428,560 | C/G | — | uncertain significance |
| rs1424432509 | 8:128,428,641 | A/C | — | uncertain significance |
| rs1398049742 | 8:128,428,668 | G/C | — | uncertain significance |
| rs769463125 | 8:128,428,775 | A/G | — | uncertain significance |
| rs770937336 | 8:128,428,790 | A/G | — | uncertain significance |
| rs6998254 | 8:128,428,795 | G/C | missense variant | — |
| rs917866631 | 8:128,428,849 | G/T | — | uncertain significance |
| rs573985615 | 8:128,428,952 | C/T | — | uncertain significance |
| rs1446624427 | 8:128,428,986 | C/G | — | uncertain significance |
| rs756479586 | 8:128,429,069 | G/C | — | uncertain significance |
| rs371019833 | 8:128,429,073 | C/G | — | uncertain significance |
| rs397839847 | 8:128,429,155 | C/T | — | likely benign |
| rs200141259 | 8:128,429,456 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.