EPB41L5
erythrocyte membrane protein band 4.1 like 5
Summary
Predicted to enable cytoskeletal protein binding activity and protein domain specific binding activity. Predicted to be involved in actomyosin structure organization. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic foregut morphogenesis; and mesoderm morphogenesis. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143715183 | 2:120,776,684 | A/G | — | likely benign |
| rs370788301 | 2:120,776,694 | C/T | — | uncertain significance |
| rs769293267 | 2:120,776,695 | G/A | — | uncertain significance |
| rs774267991 | 2:120,776,704 | G/A | — | uncertain significance |
| rs772152390 | 2:120,776,715 | G/A | — | uncertain significance |
| rs200613361 | 2:120,776,731 | G/A | — | uncertain significance |
| rs758913196 | 2:120,776,743 | G/A | — | uncertain significance |
| rs777262648 | 2:120,776,748 | G/A | — | uncertain significance |
| rs143727058 | 2:120,776,791 | C/T | — | uncertain significance |
| rs758397497 | 2:120,776,817 | A/G | — | uncertain significance |
| rs192397320 | 2:120,781,250 | C/T | intron variant | — |
| rs764846451 | 2:120,799,609 | G/A | — | uncertain significance |
| rs376981728 | 2:120,799,666 | A/G | — | uncertain significance |
| rs777943958 | 2:120,830,775 | A/C | — | uncertain significance |
| rs770560434 | 2:120,831,688 | A/G | — | uncertain significance |
| rs760710287 | 2:120,831,745 | A/C | — | uncertain significance |
| rs201680783 | 2:120,834,552 | C/G | — | uncertain significance |
| rs1558852196 | 2:120,834,612 | C/G | — | uncertain significance |
| rs181423331 | 2:120,834,623 | T/C | — | likely benign |
| rs141272714 | 2:120,834,823 | G/C | — | uncertain significance |
| rs768157420 | 2:120,836,073 | G/C | — | uncertain significance |
| rs748064954 | 2:120,849,178 | C/T | — | uncertain significance |
| rs140455711 | 2:120,857,846 | G/A | — | likely benign |
| rs765044439 | 2:120,857,849 | A/G | — | uncertain significance |
| rs138668099 | 2:120,857,855 | C/G | — | uncertain significance |
| rs768353341 | 2:120,858,275 | G/C | — | uncertain significance |
| rs769660565 | 2:120,858,284 | A/T | — | uncertain significance |
| rs371887159 | 2:120,885,299 | A/T | — | uncertain significance |
| rs911610547 | 2:120,885,303 | A/C | — | uncertain significance |
| rs766790029 | 2:120,885,317 | T/C | — | uncertain significance |
| rs773632742 | 2:120,885,410 | C/T | — | uncertain significance |
| rs182484785 | 2:120,896,440 | A/G | intron variant | — |
| rs2467172123 | 2:120,900,582 | G/A | — | uncertain significance |
| rs201588157 | 2:120,900,619 | T/G | — | uncertain significance |
| rs376393236 | 2:120,903,828 | C/T | — | uncertain significance |
| rs149270145 | 2:120,903,841 | A/G | — | likely benign |
| rs764486938 | 2:120,918,530 | G/A | — | uncertain significance |
| rs754175588 | 2:120,918,548 | A/G | — | uncertain significance |
| rs66680594 | 2:120,921,532 | C/T | — | — |
| rs371346032 | 2:120,922,434 | C/T | — | uncertain significance |
| rs115833267 | 2:120,922,485 | A/T | — | likely benign |
| rs766896474 | 2:120,925,060 | A/G | — | uncertain significance |
| rs760264529 | 2:120,925,070 | G/A | — | uncertain significance |
| rs771132735 | 2:120,925,456 | A/C | — | uncertain significance |
| rs541871187 | 2:120,925,459 | G/C | — | uncertain significance |
| rs143558813 | 2:120,925,517 | A/C | — | uncertain significance |
| rs771347858 | 2:120,925,552 | C/G | — | uncertain significance |
| rs1401839802 | 2:120,925,567 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.