CCDC134
coiled-coil domain containing 134
Summary
Enables protein-macromolecule adaptor activity. Involved in positive regulation of signal transduction; regulation of ossification; and regulation of protein glycosylation. Located in cytosol and intracellular membrane-bounded organelle. Is active in endoplasmic reticulum lumen. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1255441851 | 22:42,204,896 | T/C | — | pathogenic |
| rs752242940 | 22:42,204,994 | A/C | — | uncertain significance |
| rs141988572 | 22:42,205,928 | T/A | — | uncertain significance |
| rs138885744 | 22:42,205,957 | C/T | — | uncertain significance |
| rs763643541 | 22:42,205,975 | C/T | — | uncertain significance |
| rs201589404 | 22:42,206,280 | G/A | — | uncertain significance |
| rs768445622 | 22:42,209,294 | G/T | — | uncertain significance |
| rs768057684 | 22:42,209,318 | C/T | — | uncertain significance |
| rs376157287 | 22:42,209,325 | C/T | — | uncertain significance |
| rs368664191 | 22:42,209,334 | T/C | — | uncertain significance |
| rs373211102 | 22:42,209,338 | C/T | — | likely benign |
| rs531928294 | 22:42,209,361 | A/G | — | uncertain significance |
| rs749537268 | 22:42,209,449 | G/C | — | uncertain significance |
| rs2076609395 | 22:42,209,771 | G/A | — | uncertain significance |
| rs777145752 | 22:42,209,815 | G/A | — | uncertain significance |
| rs1232580823 | 22:42,209,818 | C/G | — | uncertain significance |
| rs201507268 | 22:42,209,822 | C/T | — | uncertain significance |
| rs7364180 | 22:42,218,856 | A/G | regulatory region variant | — |
| rs763701724 | 22:42,221,729 | A/C | — | uncertain significance |
| rs146456593 | 22:42,221,757 | G/A | — | uncertain significance |
| rs751815735 | 22:42,221,795 | C/T | — | uncertain significance |
| rs2518630300 | 22:42,221,813 | C/T | — | uncertain significance |
| rs41277466 | 22:42,221,846 | C/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.