FAM8A1
family with sequence similarity 8 member A1
Summary
Predicted to be involved in ERAD pathway. Part of Hrd1p ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2481207458 | 6:17,600,675 | C/G | — | uncertain significance |
| rs753736717 | 6:17,600,756 | C/G | — | uncertain significance |
| rs945485068 | 6:17,600,821 | G/A | — | uncertain significance |
| rs568604997 | 6:17,600,824 | G/A | — | uncertain significance |
| rs746293741 | 6:17,600,825 | C/T | — | uncertain significance |
| rs537182670 | 6:17,600,842 | G/A | — | uncertain significance |
| rs772770387 | 6:17,600,885 | G/A | — | uncertain significance |
| rs753407400 | 6:17,600,912 | C/T | — | uncertain significance |
| rs1388565733 | 6:17,600,914 | G/C | — | uncertain significance |
| rs2113743426 | 6:17,600,967 | C/G | — | uncertain significance |
| rs150990160 | 6:17,601,012 | C/T | — | likely benign |
| rs773181882 | 6:17,601,149 | G/A | — | uncertain significance |
| rs374944606 | 6:17,601,186 | C/T | — | likely benign |
| rs776746663 | 6:17,601,208 | G/A | — | uncertain significance |
| rs768571792 | 6:17,602,833 | T/C | — | uncertain significance |
| rs200868187 | 6:17,602,870 | G/A | missense variant | — |
| rs750260210 | 6:17,602,890 | T/A | — | uncertain significance |
| rs2481213706 | 6:17,602,891 | C/G | — | uncertain significance |
| rs78008661 | 6:17,605,195 | A/C | — | likely benign |
| rs1343835969 | 6:17,606,114 | A/G | — | uncertain significance |
| rs201711651 | 6:17,606,163 | G/A | — | uncertain significance |
| rs766633730 | 6:17,608,447 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.