ACBD6
acyl-CoA binding domain containing 6
Summary
Enables fatty-acyl-CoA binding activity. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs786204780 | 1:180,240,513 | A/C | coding sequence variant | pathogenic |
| rs121912643 | 1:180,240,632 | T/G | missense variant | pathogenic |
| rs121912641 | 1:180,240,991 | G/C | missense variant | pathogenic |
| rs121912644 | 1:180,243,703 | C/A | missense variant | pathogenic |
| rs72712998 | 1:180,257,603 | A/C | — | likely benign |
| rs190850033 | 1:180,324,427 | T/C | intron variant | — |
| rs200911700 | 1:180,366,644 | C/T | — | likely benign |
| rs1280629166 | 1:180,366,652 | T/G | — | uncertain significance |
| rs138259072 | 1:180,366,703 | T/C | — | uncertain significance |
| rs765369140 | 1:180,366,742 | T/C | — | uncertain significance |
| rs189730262 | 1:180,399,326 | T/C | — | likely benign |
| rs1298842306 | 1:180,399,330 | T/G | — | uncertain significance |
| rs896024036 | 1:180,399,334 | A/G | — | uncertain significance |
| rs1236162421 | 1:180,399,343 | T/C | — | uncertain significance |
| rs6700986 | 1:180,421,538 | G/A | intron variant | — |
| rs140341601 | 1:180,439,071 | T/C | intron variant | — |
| rs752535782 | 1:180,461,477 | T/G | — | uncertain significance |
| rs775168344 | 1:180,464,647 | T/C | — | uncertain significance |
| rs151129855 | 1:180,464,666 | T/C | — | likely benign |
| rs2525656325 | 1:180,471,215 | C/A | — | pathogenic |
| rs1652008589 | 1:180,471,283 | C/G | — | uncertain significance |
| rs551300416 | 1:180,471,306 | A/G | — | benign |
| rs778457212 | 1:180,471,348 | C/T | — | likely benign |
| rs747662159 | 1:180,471,356 | C/G | — | uncertain significance |
| rs1557898101 | 1:180,471,411 | C/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.