PROX1
prospero homeobox 1
Summary
The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148927346 | 1:214,150,827 | G/A | — | likely benign |
| rs2075423 | 1:214,154,719 | G/T | coding sequence variant | — |
| rs12403994 | 1:214,155,398 | C/A | upstream gene variant | — |
| rs340874 | 1:214,159,256 | T/C | upstream gene variant | — |
| rs144507992 | 1:214,169,977 | T/C | — | likely benign |
| rs375594682 | 1:214,170,054 | T/C | — | uncertain significance |
| rs775821744 | 1:214,170,060 | A/G | — | uncertain significance |
| rs148422967 | 1:214,170,061 | T/C | — | likely benign |
| rs774501972 | 1:214,170,107 | G/T | — | uncertain significance |
| rs1663280443 | 1:214,170,114 | C/T | — | uncertain significance |
| rs1663288505 | 1:214,170,270 | A/G | — | uncertain significance |
| rs2464628287 | 1:214,170,296 | T/C | — | uncertain significance |
| rs149162531 | 1:214,170,434 | G/A | — | uncertain significance |
| rs777641051 | 1:214,170,462 | C/T | — | uncertain significance |
| rs1310827382 | 1:214,170,560 | C/G | — | uncertain significance |
| rs1374427033 | 1:214,170,584 | C/T | — | uncertain significance |
| rs2464632283 | 1:214,170,611 | G/A | — | uncertain significance |
| rs1663313490 | 1:214,170,778 | C/T | — | likely benign |
| rs200543978 | 1:214,170,779 | G/A | — | uncertain significance |
| rs141960216 | 1:214,170,780 | A/G | — | uncertain significance |
| rs188226653 | 1:214,170,790 | A/C | — | likely benign |
| rs117278964 | 1:214,170,820 | G/C | — | benign |
| rs200966732 | 1:214,170,837 | T/C | — | uncertain significance |
| rs144228107 | 1:214,170,885 | A/C | — | likely benign |
| rs749752561 | 1:214,171,136 | C/T | — | uncertain significance |
| rs1663333102 | 1:214,171,142 | G/A | — | uncertain significance |
| rs1571804122 | 1:214,171,183 | G/A | — | likely benign |
| rs201989339 | 1:214,171,226 | C/A | — | uncertain significance |
| rs1663340750 | 1:214,171,273 | C/A | — | uncertain significance |
| rs4655478 | 1:214,174,332 | G/C | — | — |
| rs12073658 | 1:214,174,922 | C/A | — | — |
| rs3754140 | 1:214,176,380 | T/C | intron variant | — |
| rs7541039 | 1:214,176,779 | C/A | — | — |
| rs61320678 | 1:214,177,319 | T/G | — | — |
| rs6665764 | 1:214,177,423 | G/T | — | — |
| rs2289002 | 1:214,177,979 | T/C | intron variant | — |
| rs60932796 | 1:214,181,766 | C/A | — | — |
| rs149049354 | 1:214,209,181 | T/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.