PRRX1
paired related homeobox 1
Summary
The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3903239 | 1:170,600,176 | A/G | intron variant | — |
| rs138970767 | 1:170,633,374 | C/T | — | likely benign |
| rs778274576 | 1:170,633,390 | C/T | — | uncertain significance |
| rs370044964 | 1:170,633,408 | G/A | — | uncertain significance |
| rs945516523 | 1:170,633,501 | A/T | — | uncertain significance |
| rs74674242 | 1:170,633,544 | G/A | — | benign |
| rs1005904543 | 1:170,633,560 | G/T | — | likely benign |
| rs372174969 | 1:170,633,569 | C/T | — | likely benign |
| rs659580 | 1:170,633,896 | T/C | regulatory region variant | — |
| rs503706 | 1:170,635,084 | T/C | upstream gene variant | — |
| rs185065092 | 1:170,640,912 | G/A | regulatory region variant | — |
| rs12723586 | 1:170,658,324 | G/C | — | — |
| rs75715275 | 1:170,688,935 | A/G | — | benign |
| rs1655023196 | 1:170,688,942 | T/C | — | likely pathogenic |
| rs387906667 | 1:170,688,963 | T/C | missense variant | pathogenic |
| rs756620309 | 1:170,688,968 | C/T | — | uncertain significance |
| rs185136214 | 1:170,689,049 | C/G | — | benign |
| rs2213751 | 1:170,690,593 | T/G | intron variant | — |
| rs76839558 | 1:170,691,131 | T/G | intron variant | — |
| rs777193663 | 1:170,695,411 | G/A | — | uncertain significance |
| rs149731143 | 1:170,695,415 | G/A | — | uncertain significance |
| rs750047066 | 1:170,695,435 | C/G | — | likely benign |
| rs771291245 | 1:170,695,472 | C/G | — | uncertain significance |
| rs1655254855 | 1:170,695,493 | G/A | — | uncertain significance |
| rs1655254931 | 1:170,695,494 | C/T | — | uncertain significance |
| rs148572157 | 1:170,699,448 | C/T | — | likely benign |
| rs146552721 | 1:170,699,473 | C/T | — | likely benign |
| rs76074817 | 1:170,702,257 | A/G | intron variant | — |
| rs151333816 | 1:170,705,189 | C/A | — | likely benign |
| rs1571354325 | 1:170,705,280 | G/C | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.