PYCR3
pyrroline-5-carboxylate reductase 3
Summary
This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3816477 | 8:144,685,271 | T/C | coding sequence variant | — |
| rs746879930 | 8:144,687,879 | G/C | — | uncertain significance |
| rs35955574 | 8:144,687,896 | G/A | — | uncertain significance |
| rs35552090 | 8:144,687,901 | G/A | — | uncertain significance |
| rs557266207 | 8:144,687,917 | C/T | — | uncertain significance |
| rs199825286 | 8:144,687,937 | A/G | — | uncertain significance |
| rs754152047 | 8:144,687,961 | A/G | — | uncertain significance |
| rs2538395693 | 8:144,688,021 | T/G | — | uncertain significance |
| rs375718982 | 8:144,688,255 | G/A | — | uncertain significance |
| rs528929753 | 8:144,688,678 | C/T | — | uncertain significance |
| rs1174422260 | 8:144,688,704 | C/T | — | likely benign |
| rs200450420 | 8:144,688,716 | T/G | — | uncertain significance |
| rs369223174 | 8:144,688,767 | C/T | — | uncertain significance |
| rs778315490 | 8:144,688,770 | G/A | — | uncertain significance |
| rs141368243 | 8:144,688,809 | T/C | — | uncertain significance |
| rs746771469 | 8:144,688,821 | C/T | — | uncertain significance |
| rs201291078 | 8:144,688,837 | T/C | — | uncertain significance |
| rs1372039506 | 8:144,689,136 | C/T | — | uncertain significance |
| rs376989711 | 8:144,689,185 | C/A | — | uncertain significance |
| rs371415177 | 8:144,689,188 | C/A | — | uncertain significance |
| rs779639936 | 8:144,689,245 | C/T | — | uncertain significance |
| rs189014907 | 8:144,689,290 | G/A | — | uncertain significance |
| rs11136305 | 8:144,689,914 | C/T | regulatory region variant | — |
| rs762905058 | 8:144,690,263 | G/A | — | uncertain significance |
| rs34121654 | 8:144,690,264 | C/T | — | likely benign |
| rs2538404659 | 8:144,691,663 | A/G | — | uncertain significance |
| rs1014985797 | 8:144,691,696 | G/T | — | uncertain significance |
| rs193920765 | 8:144,691,703 | G/A | — | uncertain significance |
| rs761841063 | 8:144,691,717 | A/G | — | uncertain significance |
| rs757971555 | 8:144,691,732 | A/G | — | uncertain significance |
| rs3812442 | 8:144,692,971 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.