PKNOX1
PBX/knotted 1 homeobox 1
Summary
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in angiogenesis. Predicted to act upstream of or within camera-type eye development; hemopoiesis; and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs234750 | 21:44,394,054 | C/T | — | — |
| rs8127209 | 21:44,423,282 | T/A | — | — |
| rs1243185755 | 21:44,424,523 | G/A | — | uncertain significance |
| rs2517297165 | 21:44,430,245 | A/T | — | uncertain significance |
| rs751271753 | 21:44,430,263 | G/A | — | uncertain significance |
| rs2839618 | 21:44,433,454 | C/G | intron variant | — |
| rs2839619 | 21:44,436,177 | G/A | intron variant | — |
| rs755432107 | 21:44,437,069 | C/G | — | uncertain significance |
| rs199944249 | 21:44,437,079 | C/T | — | uncertain significance |
| rs746110372 | 21:44,438,320 | A/G | — | uncertain significance |
| rs111421447 | 21:44,439,332 | G/C | — | — |
| rs3788042 | 21:44,442,388 | G/A | intron variant | — |
| rs234720 | 21:44,445,292 | C/T | intron variant | — |
| rs2839627 | 21:44,448,718 | C/T | intron variant | — |
| rs377682317 | 21:44,448,909 | G/A | — | uncertain significance |
| rs376386330 | 21:44,448,954 | C/A | — | uncertain significance |
| rs749318888 | 21:44,448,968 | G/T | — | uncertain significance |
| rs765836231 | 21:44,450,026 | G/A | — | uncertain significance |
| rs766905317 | 21:44,450,032 | A/G | — | uncertain significance |
| rs754829059 | 21:44,450,113 | G/A | — | uncertain significance |
| rs1294074010 | 21:44,450,152 | G/A | — | uncertain significance |
| rs375619701 | 21:44,450,176 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.