ERO1A
endoplasmic reticulum oxidoreductase 1 alpha
Summary
Enables oxidoreductase activity. Involved in cell redox homeostasis and chaperone cofactor-dependent protein refolding. Located in Golgi lumen; endoplasmic reticulum; and extracellular space. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs34558958 | 14:53,112,928 | A/G | — | benign |
| rs190826019 | 14:53,112,961 | T/G | — | uncertain significance |
| rs768461835 | 14:53,113,136 | T/C | — | uncertain significance |
| rs1455494464 | 14:53,119,003 | T/C | — | uncertain significance |
| rs369212913 | 14:53,119,834 | C/A | — | uncertain significance |
| rs370745677 | 14:53,119,871 | C/A | — | uncertain significance |
| rs758763441 | 14:53,119,902 | C/T | — | uncertain significance |
| rs771216182 | 14:53,119,973 | C/A | — | uncertain significance |
| rs757739519 | 14:53,124,725 | G/C | — | uncertain significance |
| rs114268892 | 14:53,124,734 | A/C | — | benign |
| rs62639686 | 14:53,124,867 | C/T | — | benign |
| rs1172188263 | 14:53,130,548 | C/G | — | uncertain significance |
| rs749421090 | 14:53,133,208 | G/C | — | uncertain significance |
| rs200092223 | 14:53,138,426 | A/G | — | benign |
| rs150503962 | 14:53,138,564 | A/G | — | uncertain significance |
| rs1570255 | 14:53,151,145 | G/A | — | — |
| rs373905135 | 14:53,162,101 | C/G | — | uncertain significance |
| rs1057057535 | 14:53,162,108 | G/C | — | uncertain significance |
| rs963942327 | 14:53,162,190 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.