GIPC1
GIPC PDZ domain containing family member 1
Summary
GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3760702 | 19:14,588,237 | G/A | downstream gene variant | — |
| rs2241358 | 19:14,588,476 | C/G | downstream gene variant | — |
| rs776615242 | 19:14,589,232 | T/C | — | uncertain significance |
| rs775497867 | 19:14,589,239 | C/T | — | uncertain significance |
| rs771968155 | 19:14,589,504 | G/A | — | uncertain significance |
| rs201836982 | 19:14,590,249 | C/T | — | uncertain significance |
| rs527522378 | 19:14,590,250 | G/A | — | uncertain significance |
| rs2512862160 | 19:14,590,259 | G/A | — | uncertain significance |
| rs772610647 | 19:14,590,273 | C/T | — | uncertain significance |
| rs560833453 | 19:14,590,280 | T/G | — | uncertain significance |
| rs150609949 | 19:14,590,301 | C/T | — | uncertain significance |
| rs147583484 | 19:14,590,315 | G/A | — | likely benign |
| rs767475011 | 19:14,590,316 | C/T | — | uncertain significance |
| rs1174541092 | 19:14,590,327 | C/T | — | uncertain significance |
| rs766409659 | 19:14,591,128 | C/A | — | uncertain significance |
| rs777227747 | 19:14,591,270 | G/C | — | uncertain significance |
| rs762937627 | 19:14,591,296 | C/T | — | uncertain significance |
| rs1463957428 | 19:14,591,430 | T/C | — | uncertain significance |
| rs2071708469 | 19:14,591,458 | C/T | — | uncertain significance |
| rs1568361483 | 19:14,591,535 | C/T | — | uncertain significance |
| rs901241737 | 19:14,591,550 | T/C | — | uncertain significance |
| rs781405718 | 19:14,591,555 | G/T | — | uncertain significance |
| rs770234497 | 19:14,591,561 | T/G | — | uncertain significance |
| rs2512873312 | 19:14,593,509 | T/C | — | likely benign |
| rs2071756194 | 19:14,593,527 | C/T | — | uncertain significance |
| rs745373499 | 19:14,593,557 | T/C | — | uncertain significance |
| rs765369248 | 19:14,593,654 | C/T | — | uncertain significance |
| rs199741925 | 19:14,593,670 | G/A | — | uncertain significance |
| rs564368722 | 19:14,593,680 | C/T | — | uncertain significance |
| rs192899612 | 19:14,593,720 | G/A | — | likely benign |
| rs199560632 | 19:14,593,767 | G/A | — | uncertain significance |
| rs752334098 | 19:14,593,769 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.