PROCR
protein C receptor
Summary
The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6120854 | 20:33,757,180 | C/A | — | — |
| rs2069940 | 20:33,759,272 | C/A | — | — |
| rs2069945 | 20:33,761,837 | C/T | — | — |
| rs2069948 | 20:33,762,489 | C/T | regulatory region variant | — |
| rs746777605 | 20:33,762,598 | C/T | — | uncertain significance |
| rs150846093 | 20:33,762,696 | T/C | — | benign |
| rs139714129 | 20:33,762,717 | G/T | — | uncertain significance |
| rs779598706 | 20:33,762,745 | G/C | — | uncertain significance |
| rs2069951 | 20:33,763,764 | G/A | intron variant | — |
| rs2069952 | 20:33,763,951 | C/T | intron variant | — |
| rs2515552762 | 20:33,764,031 | A/T | — | uncertain significance |
| rs186899359 | 20:33,764,041 | C/T | — | likely benign |
| rs900068008 | 20:33,764,165 | C/G | — | uncertain significance |
| rs1265727300 | 20:33,764,184 | G/A | — | likely benign |
| rs751051139 | 20:33,764,202 | C/A | — | uncertain significance |
| rs767198659 | 20:33,764,528 | C/T | — | uncertain significance |
| rs867186 | 20:33,764,554 | A/G | missense variant | — |
| rs9574 | 20:33,764,632 | C/A | intron variant | — |
| rs6088753 | 20:33,768,252 | C/T | downstream gene variant | — |
| rs6060288 | 20:33,772,243 | G/A | intron variant | — |
| rs7263203 | 20:33,773,375 | A/G | — | — |
| rs11167260 | 20:33,775,200 | G/A | intron variant | — |
| rs11904888 | 20:33,778,866 | T/A | upstream gene variant | — |
| rs4911477 | 20:33,780,985 | T/C | upstream gene variant | — |
| rs78967641 | 20:33,783,053 | G/A | — | — |
| rs8114671 | 20:33,789,142 | C/G | — | — |
| rs77261161 | 20:33,793,245 | C/T | upstream gene variant | — |
| rs6088765 | 20:33,799,280 | T/A | — | — |
| rs191891050 | 20:33,801,259 | T/A | downstream gene variant | — |
| rs62211513 | 20:33,802,063 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.