PCID2
PCI domain containing 2
Summary
This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs114687559 | 13:113,829,561 | G/C | downstream gene variant | — |
| rs34201467 | 13:113,830,329 | T/C | downstream gene variant | — |
| rs200040694 | 13:113,832,605 | C/T | — | benign |
| rs116359265 | 13:113,833,932 | T/C | regulatory region variant | — |
| rs2503231626 | 13:113,834,334 | G/T | — | likely benign |
| rs767129015 | 13:113,834,476 | C/T | — | uncertain significance |
| rs897074614 | 13:113,835,482 | T/C | — | uncertain significance |
| rs1182774429 | 13:113,835,502 | G/C | — | uncertain significance |
| rs530835871 | 13:113,838,672 | C/T | — | uncertain significance |
| rs181797069 | 13:113,843,310 | G/A | intron variant | — |
| rs556990 | 13:113,845,059 | T/C | intron variant | — |
| rs61743295 | 13:113,845,248 | C/A | — | benign |
| rs189437845 | 13:113,848,542 | G/T | intron variant | — |
| rs765951977 | 13:113,850,523 | C/T | — | uncertain significance |
| rs2039000562 | 13:113,850,525 | C/T | — | uncertain significance |
| rs201981443 | 13:113,851,510 | C/T | — | uncertain significance |
| rs1427153347 | 13:113,854,824 | C/T | — | uncertain significance |
| rs9549357 | 13:113,860,121 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.