ERAP1
endoplasmic reticulum aminopeptidase 1
Summary
The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
Known Variants142 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs399005 | 5:96,111,240 | T/A | — | — |
| rs13160562 | 5:96,111,371 | G/A | downstream gene variant | — |
| rs17481334 | 5:96,111,779 | A/G | — | benign |
| rs112855255 | 5:96,111,805 | G/T | — | benign |
| rs10515248 | 5:96,112,005 | C/T | — | benign |
| rs1065407 | 5:96,112,083 | T/G | — | benign |
| rs1581518421 | 5:96,112,127 | C/T | — | likely benign |
| rs146333496 | 5:96,112,139 | G/A | — | benign |
| rs139576768 | 5:96,112,182 | A/G | — | likely benign |
| rs554933786 | 5:96,112,237 | A/G | — | uncertain significance |
| rs771408921 | 5:96,112,249 | C/T | — | uncertain significance |
| rs200371329 | 5:96,112,264 | G/A | — | likely benign |
| rs56213813 | 5:96,112,284 | A/T | — | benign |
| rs56325109 | 5:96,112,295 | C/T | — | benign |
| rs27038 | 5:96,112,954 | A/G | downstream gene variant | — |
| rs149481 | 5:96,114,346 | A/T | — | — |
| rs1342946939 | 5:96,116,128 | T/G | — | uncertain significance |
| rs371393983 | 5:96,116,138 | G/A | — | likely benign |
| rs1214472415 | 5:96,116,157 | A/C | — | uncertain significance |
| rs140865304 | 5:96,116,799 | G/T | — | likely benign |
| rs17481856 | 5:96,116,808 | G/A | — | benign |
| rs80088786 | 5:96,116,854 | G/A | — | benign |
| rs774553873 | 5:96,116,879 | C/G | — | uncertain significance |
| rs27042 | 5:96,116,940 | A/G | — | benign |
| rs27043 | 5:96,117,300 | G/A | — | benign |
| rs201784710 | 5:96,117,388 | C/T | — | benign |
| rs766710538 | 5:96,117,414 | A/G | — | likely benign |
| rs142985224 | 5:96,117,477 | A/G | — | benign |
| rs993703459 | 5:96,117,482 | T/C | — | uncertain significance |
| rs1334571580 | 5:96,117,491 | G/A | — | uncertain significance |
| rs1775209581 | 5:96,117,512 | T/C | — | uncertain significance |
| rs151103435 | 5:96,117,548 | C/T | — | uncertain significance |
| rs146423238 | 5:96,118,811 | G/A | — | benign |
| rs2533405207 | 5:96,118,831 | C/T | — | uncertain significance |
| rs27044 | 5:96,118,852 | G/C | missense variant | benign |
| rs17482078 | 5:96,118,866 | C/T | missense variant | benign |
| rs768842345 | 5:96,118,885 | C/T | — | uncertain significance |
| rs200814357 | 5:96,119,579 | A/T | downstream gene variant | — |
| rs187447495 | 5:96,119,619 | G/A | — | likely benign |
| rs761247044 | 5:96,119,716 | A/T | — | uncertain significance |
| rs147252760 | 5:96,119,782 | A/G | — | uncertain significance |
| rs39841 | 5:96,120,170 | G/C | — | — |
| rs469876 | 5:96,121,406 | A/G | intron variant | benign |
| rs111363347 | 5:96,121,496 | C/T | — | benign |
| rs76598089 | 5:96,121,497 | G/A | — | benign |
| rs469783 | 5:96,121,524 | C/T | — | benign |
| rs201856260 | 5:96,121,583 | C/A | — | conflicting classifications of pathogenicity |
| rs149374891 | 5:96,121,596 | C/A | — | uncertain significance |
| rs1394921907 | 5:96,121,605 | C/A | — | likely benign |
| rs114703312 | 5:96,121,672 | A/C | — | benign |
| rs1188343598 | 5:96,121,679 | G/C | — | likely benign |
| rs469758 | 5:96,121,715 | C/T | — | benign |
| rs909816083 | 5:96,122,197 | C/T | — | uncertain significance |
| rs10050860 | 5:96,122,210 | C/T | missense variant | benign |
| rs2533460078 | 5:96,122,219 | T/C | — | uncertain significance |
| rs1179416608 | 5:96,122,242 | T/C | — | uncertain significance |
| rs30379 | 5:96,122,260 | T/G | — | benign |
| rs30380 | 5:96,122,281 | A/C | — | benign |
| rs168674 | 5:96,123,125 | T/C | downstream gene variant | — |
| rs467735 | 5:96,123,160 | T/C | downstream gene variant | — |
| rs246454 | 5:96,123,264 | C/A | downstream gene variant | — |
| rs61734613 | 5:96,124,247 | C/T | — | likely benign |
| rs1429051572 | 5:96,124,277 | G/C | — | uncertain significance |
| rs2278017 | 5:96,124,296 | C/G | — | benign |
| rs30187 | 5:96,124,330 | T/C | missense variant | benign |
| rs78649652 | 5:96,124,373 | T/C | — | likely benign |
| rs30186 | 5:96,124,447 | G/C | — | benign |
| rs26510 | 5:96,125,910 | C/T | — | benign |
| rs543363550 | 5:96,126,001 | A/T | — | uncertain significance |
| rs144737304 | 5:96,126,041 | C/T | — | uncertain significance |
| rs1471744535 | 5:96,126,054 | C/G | — | uncertain significance |
| rs27710 | 5:96,126,197 | A/G | — | benign |
| rs27529 | 5:96,126,308 | A/G | synonymous variant | benign |
| rs184320964 | 5:96,126,328 | T/C | — | uncertain significance |
| rs2533519507 | 5:96,126,337 | T/C | — | uncertain significance |
| rs1229260914 | 5:96,127,788 | C/A | — | uncertain significance |
| rs146386179 | 5:96,127,799 | T/C | — | uncertain significance |
| rs3213809 | 5:96,127,833 | A/G | — | benign |
| rs376696268 | 5:96,127,865 | C/T | — | uncertain significance |
| rs145458413 | 5:96,127,866 | G/A | — | benign |
| rs181668902 | 5:96,127,868 | C/T | — | likely benign |
| rs1417147088 | 5:96,127,874 | A/G | — | uncertain significance |
| rs27640 | 5:96,127,905 | T/C | — | benign |
| rs2533550106 | 5:96,129,129 | T/C | — | uncertain significance |
| rs27434 | 5:96,129,512 | A/G | synonymous variant | benign |
| rs2287987 | 5:96,129,535 | T/C | missense variant | benign |
| rs27895 | 5:96,129,543 | T/C | — | benign |
| rs556623443 | 5:96,129,625 | T/C | — | likely benign |
| rs574810839 | 5:96,129,631 | C/T | — | uncertain significance |
| rs469735 | 5:96,130,014 | T/A | — | — |
| rs26618 | 5:96,130,836 | T/C | missense variant | benign |
| rs777367883 | 5:96,130,846 | G/A | — | uncertain significance |
| rs576554860 | 5:96,130,859 | C/G | — | uncertain significance |
| rs26489 | 5:96,133,427 | C/T | intron variant | — |
| rs2013671 | 5:96,134,283 | T/A | — | — |
| rs27528 | 5:96,136,525 | T/C | — | benign |
| rs2533642597 | 5:96,136,570 | G/T | — | uncertain significance |
| rs577150352 | 5:96,136,623 | C/T | — | uncertain significance |
| rs139782060 | 5:96,136,668 | G/C | — | uncertain significance |
| rs142482678 | 5:96,136,677 | G/C | — | benign |
Showing 100 of 142 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.