PVR
PVR cell adhesion molecule
Summary
The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73048339 | 19:45,145,863 | T/C | — | — |
| rs7255066 | 19:45,146,103 | T/C | upstream gene variant | — |
| rs11540085 | 19:45,147,396 | C/T | — | benign |
| rs1429847650 | 19:45,147,452 | T/C | — | uncertain significance |
| rs28483039 | 19:45,149,235 | G/A | intron variant | — |
| rs1313248572 | 19:45,150,503 | G/A | — | uncertain significance |
| rs1460564211 | 19:45,150,594 | A/G | — | uncertain significance |
| rs1058402 | 19:45,150,614 | G/A | — | benign |
| rs539060105 | 19:45,150,621 | A/T | — | uncertain significance |
| rs558066119 | 19:45,150,644 | G/T | — | uncertain significance |
| rs368911732 | 19:45,150,718 | G/A | — | likely benign |
| rs779964038 | 19:45,150,758 | G/C | — | uncertain significance |
| rs10421291 | 19:45,150,763 | G/A | — | benign |
| rs8111946 | 19:45,152,394 | T/C | regulatory region variant | — |
| rs35959395 | 19:45,153,113 | G/C | missense variant | — |
| rs374436051 | 19:45,153,132 | C/G | — | uncertain significance |
| rs2513539552 | 19:45,153,142 | G/A | — | uncertain significance |
| rs377417539 | 19:45,153,169 | C/T | — | likely benign |
| rs377122243 | 19:45,153,192 | A/G | — | likely benign |
| rs548525318 | 19:45,153,206 | G/A | — | uncertain significance |
| rs561763868 | 19:45,153,219 | C/T | — | uncertain significance |
| rs376720266 | 19:45,153,299 | G/A | — | uncertain significance |
| rs2513539975 | 19:45,153,326 | C/G | — | uncertain significance |
| rs139528439 | 19:45,153,329 | G/A | — | benign |
| rs749969005 | 19:45,153,336 | T/C | — | uncertain significance |
| rs113996429 | 19:45,153,370 | C/T | — | likely benign |
| rs10406264 | 19:45,157,060 | G/A | — | — |
| rs748982636 | 19:45,157,184 | C/T | — | uncertain significance |
| rs203707 | 19:45,157,488 | A/G | intron variant | — |
| rs10410651 | 19:45,160,896 | T/G | — | — |
| rs35365841 | 19:45,161,070 | G/A | — | benign |
| rs146619511 | 19:45,161,086 | G/A | — | likely benign |
| rs145690388 | 19:45,161,116 | T/C | — | uncertain significance |
| rs555430042 | 19:45,161,120 | C/T | — | likely benign |
| rs138415573 | 19:45,161,134 | A/G | — | likely benign |
| rs1261406779 | 19:45,161,136 | G/A | — | uncertain significance |
| rs1486853015 | 19:45,161,137 | C/T | — | uncertain significance |
| rs203708 | 19:45,161,139 | C/G | — | uncertain significance |
| rs148679696 | 19:45,161,755 | C/T | upstream gene variant | — |
| rs193245079 | 19:45,161,806 | C/T | upstream gene variant | — |
| rs1568505700 | 19:45,162,023 | T/A | — | uncertain significance |
| rs777036330 | 19:45,162,043 | G/A | — | uncertain significance |
| rs139267469 | 19:45,162,059 | C/A | missense variant | — |
| rs772415350 | 19:45,162,133 | G/A | — | uncertain significance |
| rs138615096 | 19:45,164,185 | A/C | upstream gene variant | — |
| rs746864435 | 19:45,164,570 | G/A | — | uncertain significance |
| rs139862252 | 19:45,164,576 | G/A | — | uncertain significance |
| rs2513554836 | 19:45,164,588 | G/C | — | uncertain significance |
| rs2272021 | 19:45,164,732 | T/C | — | — |
| rs1327821969 | 19:45,165,028 | A/C | — | uncertain significance |
| rs1231141132 | 19:45,165,029 | G/C | — | uncertain significance |
| rs1181567697 | 19:45,165,064 | G/A | — | uncertain significance |
| rs142060505 | 19:45,167,624 | C/T | downstream gene variant | — |
| rs537020933 | 19:45,168,304 | G/T | — | — |
| rs62119319 | 19:45,169,408 | A/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.