TOR3A
torsin family 3 member A
Summary
Enables ATP hydrolysis activity. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs778756684 | 1:179,051,316 | C/G | — | uncertain significance |
| rs577489710 | 1:179,051,339 | G/A | — | likely benign |
| rs1010659494 | 1:179,051,382 | G/C | — | uncertain significance |
| rs777640568 | 1:179,051,430 | G/C | — | uncertain significance |
| rs1322231170 | 1:179,051,468 | C/G | — | uncertain significance |
| rs2526726775 | 1:179,051,496 | A/T | — | uncertain significance |
| rs751452219 | 1:179,051,504 | G/A | — | uncertain significance |
| rs1572571811 | 1:179,052,113 | C/T | — | uncertain significance |
| rs773957074 | 1:179,054,880 | C/T | — | uncertain significance |
| rs767665371 | 1:179,054,915 | G/A | — | uncertain significance |
| rs774518433 | 1:179,054,961 | G/C | — | uncertain significance |
| rs149121545 | 1:179,054,977 | G/T | — | uncertain significance |
| rs377658815 | 1:179,057,067 | C/T | — | uncertain significance |
| rs370647290 | 1:179,057,068 | G/C | — | uncertain significance |
| rs992043619 | 1:179,057,070 | G/C | — | uncertain significance |
| rs778710743 | 1:179,057,074 | C/T | — | uncertain significance |
| rs763312561 | 1:179,057,088 | C/T | — | uncertain significance |
| rs1007630496 | 1:179,057,143 | A/G | — | uncertain significance |
| rs1232166358 | 1:179,057,148 | C/T | — | uncertain significance |
| rs370170124 | 1:179,057,166 | C/T | — | uncertain significance |
| rs2526741219 | 1:179,057,223 | A/C | — | uncertain significance |
| rs45499094 | 1:179,057,597 | C/T | — | — |
| rs1235260916 | 1:179,063,229 | A/C | — | uncertain significance |
| rs149941828 | 1:179,063,305 | T/A | — | uncertain significance |
| rs145238611 | 1:179,063,312 | C/G | — | uncertain significance |
| rs368147055 | 1:179,063,350 | T/C | — | likely benign |
| rs555533443 | 1:179,064,127 | T/A | — | uncertain significance |
| rs200597532 | 1:179,064,142 | T/A | — | uncertain significance |
| rs149476886 | 1:179,064,180 | C/T | — | uncertain significance |
| rs146269781 | 1:179,064,228 | C/T | — | likely benign |
| rs372483830 | 1:179,064,298 | T/C | — | uncertain significance |
| rs375736796 | 1:179,064,321 | A/C | — | uncertain significance |
| rs771632462 | 1:179,064,342 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.