DERL3
derlin 3
Summary
The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375769198 | 22:24,179,263 | G/C | — | uncertain significance |
| rs369004034 | 22:24,179,303 | C/T | — | uncertain significance |
| rs117846678 | 22:24,179,334 | C/T | — | likely benign |
| rs372755920 | 22:24,179,892 | C/T | — | uncertain significance |
| rs147652172 | 22:24,179,944 | T/C | — | uncertain significance |
| rs142231459 | 22:24,179,990 | T/C | — | uncertain significance |
| rs750621124 | 22:24,180,550 | C/A | — | uncertain significance |
| rs758963009 | 22:24,180,758 | G/C | — | uncertain significance |
| rs375491312 | 22:24,180,772 | A/C | — | uncertain significance |
| rs368825157 | 22:24,180,775 | C/A | — | uncertain significance |
| rs747747821 | 22:24,180,778 | A/C | — | uncertain significance |
| rs777744366 | 22:24,180,797 | A/C | — | uncertain significance |
| rs543613422 | 22:24,182,239 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.