VAX1
ventral anterior homeobox 1
Summary
This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10787760 | 10:118,890,693 | G/A | downstream gene variant | — |
| rs6585429 | 10:118,893,231 | A/G | 3 prime UTR variant | benign |
| rs201441554 | 10:118,893,579 | G/A | — | benign |
| rs1589946008 | 10:118,893,585 | G/A | — | likely benign |
| rs1006865637 | 10:118,893,605 | A/C | — | uncertain significance |
| rs794727489 | 10:118,893,641 | T/C | — | uncertain significance |
| rs2493437704 | 10:118,893,671 | C/A | — | uncertain significance |
| rs1203315887 | 10:118,893,691 | G/T | — | uncertain significance |
| rs1255216202 | 10:118,893,703 | C/A | — | uncertain significance |
| rs886042715 | 10:118,893,720 | C/G | — | uncertain significance |
| rs2493438095 | 10:118,893,803 | A/T | — | uncertain significance |
| rs794727490 | 10:118,893,809 | C/A | — | uncertain significance |
| rs551938880 | 10:118,893,810 | G/A | — | likely benign |
| rs1427337241 | 10:118,893,830 | C/A | — | uncertain significance |
| rs571879048 | 10:118,893,836 | C/T | — | likely benign |
| rs1390036718 | 10:118,893,844 | G/A | — | uncertain significance |
| rs534482978 | 10:118,893,846 | G/A | — | likely benign |
| rs1301499368 | 10:118,893,849 | C/A | — | likely benign |
| rs1335412488 | 10:118,893,858 | A/G | — | likely benign |
| rs925870902 | 10:118,893,873 | C/G | — | benign |
| rs1420943430 | 10:118,893,880 | G/T | — | uncertain significance |
| rs554140675 | 10:118,893,882 | C/T | — | conflicting classifications of pathogenicity |
| rs1157104990 | 10:118,893,886 | C/G | — | uncertain significance |
| rs780107711 | 10:118,893,890 | G/T | — | uncertain significance |
| rs910215164 | 10:118,893,900 | C/T | — | likely benign |
| rs944388651 | 10:118,893,903 | T/A | — | likely benign |
| rs993656136 | 10:118,893,928 | G/T | — | uncertain significance |
| rs753465387 | 10:118,893,947 | G/A | — | benign |
| rs2041289882 | 10:118,893,963 | C/T | — | likely benign |
| rs377184623 | 10:118,893,983 | G/T | — | uncertain significance |
| rs1370078092 | 10:118,893,986 | G/A | — | uncertain significance |
| rs759903028 | 10:118,894,054 | T/C | — | uncertain significance |
| rs387907252 | 10:118,894,070 | G/T | missense variant | pathogenic |
| rs1871345 | 10:118,895,368 | C/G | — | — |
| rs753533789 | 10:118,896,037 | C/G | — | uncertain significance |
| rs1318389011 | 10:118,896,130 | G/A | — | likely benign |
| rs2493441643 | 10:118,896,162 | C/T | — | uncertain significance |
| rs200000920 | 10:118,896,175 | G/A | — | likely benign |
| rs751231 | 10:118,896,664 | A/C | regulatory region variant | — |
| rs377475670 | 10:118,897,308 | C/A | — | likely benign |
| rs148630891 | 10:118,897,442 | G/A | — | likely benign |
| rs768646019 | 10:118,897,446 | G/C | — | uncertain significance |
| rs141168124 | 10:118,897,449 | G/C | — | uncertain significance |
| rs376554237 | 10:118,897,488 | T/G | — | uncertain significance |
| rs2493443922 | 10:118,897,534 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.