ANKRD54
ankyrin repeat domain 54
Summary
Predicted to enable protein kinase regulator activity. Predicted to be involved in positive regulation of erythrocyte differentiation and regulation of intracellular signal transduction. Predicted to act upstream of or within nucleocytoplasmic transport and regulation of protein kinase activity. Predicted to be located in midbody. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3091367 | 22:38,227,821 | C/T | — | — |
| rs140820596 | 22:38,228,693 | C/T | — | uncertain significance |
| rs144561541 | 22:38,228,694 | G/A | — | uncertain significance |
| rs779528007 | 22:38,228,721 | G/A | — | uncertain significance |
| rs150257798 | 22:38,228,981 | C/T | — | uncertain significance |
| rs781473405 | 22:38,228,987 | G/A | — | uncertain significance |
| rs1301909839 | 22:38,229,045 | G/A | — | uncertain significance |
| rs759114130 | 22:38,229,190 | C/T | — | uncertain significance |
| rs762403483 | 22:38,229,723 | C/T | — | uncertain significance |
| rs139460525 | 22:38,229,751 | G/A | — | benign |
| rs2517747419 | 22:38,234,509 | A/G | — | uncertain significance |
| rs143838438 | 22:38,234,582 | C/T | — | uncertain significance |
| rs1212889378 | 22:38,236,220 | G/A | — | uncertain significance |
| rs894697954 | 22:38,239,923 | A/C | — | uncertain significance |
| rs2517766866 | 22:38,239,944 | A/C | — | uncertain significance |
| rs868481555 | 22:38,239,984 | C/T | — | uncertain significance |
| rs1057132796 | 22:38,239,987 | G/T | — | uncertain significance |
| rs528289648 | 22:38,240,061 | T/G | — | uncertain significance |
| rs1218779967 | 22:38,240,119 | C/T | — | uncertain significance |
| rs372650126 | 22:38,240,128 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.