QPCT
glutaminyl-peptide cyclotransferase
Summary
This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq, Jul 2008]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs779520320 | 2:37,571,956 | G/C | — | uncertain significance |
| rs897828054 | 2:37,571,975 | C/T | — | uncertain significance |
| rs768922168 | 2:37,571,993 | A/C | — | uncertain significance |
| rs12467820 | 2:37,572,806 | G/C | — | — |
| rs12468307 | 2:37,574,965 | T/C | — | — |
| rs3770752 | 2:37,576,136 | A/T | — | — |
| rs77684493 | 2:37,579,159 | G/A | — | — |
| rs2230299 | 2:37,579,937 | C/T | synonymous variant | — |
| rs1171421726 | 2:37,580,035 | T/C | — | uncertain significance |
| rs769494738 | 2:37,586,747 | C/T | — | uncertain significance |
| rs897129020 | 2:37,586,792 | A/C | — | uncertain significance |
| rs200706403 | 2:37,586,799 | A/G | — | uncertain significance |
| rs753696536 | 2:37,586,939 | G/A | — | uncertain significance |
| rs1672826748 | 2:37,586,953 | G/T | — | uncertain significance |
| rs377019889 | 2:37,586,969 | C/T | — | uncertain significance |
| rs748678483 | 2:37,586,970 | G/A | — | uncertain significance |
| rs72864889 | 2:37,592,335 | C/T | intron variant | — |
| rs2373000 | 2:37,592,628 | C/T | intron variant | — |
| rs151306583 | 2:37,594,376 | C/G | — | uncertain significance |
| rs573381103 | 2:37,594,460 | A/T | — | uncertain significance |
| rs758736627 | 2:37,594,478 | G/A | — | uncertain significance |
| rs367739079 | 2:37,594,484 | T/C | — | uncertain significance |
| rs146420099 | 2:37,594,498 | G/C | missense variant | — |
| rs759201090 | 2:37,594,502 | C/T | — | uncertain significance |
| rs755212233 | 2:37,594,527 | A/C | — | uncertain significance |
| rs3770748 | 2:37,595,525 | A/G | intron variant | — |
| rs757404079 | 2:37,596,852 | A/G | — | uncertain significance |
| rs1372119925 | 2:37,596,870 | A/G | — | uncertain significance |
| rs966395275 | 2:37,596,882 | T/G | — | uncertain significance |
| rs1673035158 | 2:37,596,885 | T/A | — | uncertain significance |
| rs780619329 | 2:37,599,543 | G/C | — | uncertain significance |
| rs753370184 | 2:37,599,600 | C/G | — | uncertain significance |
| rs1368650871 | 2:37,599,827 | G/A | — | uncertain significance |
| rs777949402 | 2:37,599,830 | C/G | — | uncertain significance |
| rs1426566308 | 2:37,599,869 | T/C | — | uncertain significance |
| rs761665807 | 2:37,599,878 | A/G | — | uncertain significance |
| rs753278087 | 2:37,599,911 | A/G | — | uncertain significance |
| rs116754028 | 2:37,599,942 | T/C | — | benign |
| rs534266927 | 2:37,600,866 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.