TPD52L1
TPD52 like 1
Summary
This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs189566951 | 6:125,474,685 | C/T | regulatory region variant | — |
| rs550802865 | 6:125,490,494 | C/T | — | — |
| rs573437809 | 6:125,492,922 | A/C | — | — |
| rs190647351 | 6:125,538,936 | C/T | downstream gene variant | — |
| rs937546305 | 6:125,541,293 | T/C | — | uncertain significance |
| rs760514773 | 6:125,550,326 | G/C | — | uncertain significance |
| rs191647569 | 6:125,551,396 | C/A | intron variant | — |
| rs548550193 | 6:125,552,504 | C/A | — | — |
| rs192152681 | 6:125,554,654 | A/T | regulatory region variant | — |
| rs921257679 | 6:125,569,490 | A/G | — | uncertain significance |
| rs192609098 | 6:125,571,903 | G/T | intron variant | — |
| rs4895687 | 6:125,582,945 | G/T | intron variant | — |
| rs772348702 | 6:125,583,992 | G/A | — | uncertain significance |
| rs780555981 | 6:125,583,996 | C/T | — | uncertain significance |
| rs368984698 | 6:125,584,028 | C/G | — | uncertain significance |
| rs758723323 | 6:125,584,097 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.