GP1BA
glycoprotein Ib platelet subunit alpha
Summary
Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
Known Variants150 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2243086 | 17:4,834,209 | G/T | upstream gene variant | — |
| rs2243090 | 17:4,835,217 | T/C | upstream gene variant | — |
| rs56337033 | 17:4,835,627 | C/T | downstream gene variant | — |
| rs81663 | 17:4,835,852 | A/T | — | benign |
| rs2243093 | 17:4,835,895 | T/C | splice region variant | benign |
| rs759849279 | 17:4,835,931 | C/T | — | uncertain significance |
| rs2151107661 | 17:4,835,957 | T/G | — | pathogenic |
| rs1970358433 | 17:4,835,963 | G/T | — | uncertain significance |
| rs201827537 | 17:4,835,991 | T/C | — | uncertain significance |
| rs2151107674 | 17:4,835,996 | T/C | — | likely pathogenic |
| rs1597638300 | 17:4,835,997 | G/C | — | likely pathogenic |
| rs111292798 | 17:4,836,005 | A/G | — | benign |
| rs760759446 | 17:4,836,036 | C/T | — | conflicting classifications of pathogenicity |
| rs750305979 | 17:4,836,037 | G/A | — | likely benign |
| rs2151107705 | 17:4,836,068 | A/G | — | likely pathogenic |
| rs1597638398 | 17:4,836,070 | C/A | — | conflicting classifications of pathogenicity |
| rs751326171 | 17:4,836,071 | C/T | — | uncertain significance |
| rs2507591972 | 17:4,836,075 | T/C | — | uncertain significance |
| rs2151107711 | 17:4,836,090 | T/C | — | uncertain significance |
| rs1244043365 | 17:4,836,093 | C/T | — | uncertain significance |
| rs1597638430 | 17:4,836,099 | T/G | — | uncertain significance |
| rs138825640 | 17:4,836,105 | C/T | — | benign |
| rs6068 | 17:4,836,114 | G/A | — | likely benign |
| rs121908063 | 17:4,836,116 | C/T | missense variant | pathogenic |
| rs1319946411 | 17:4,836,129 | A/C | — | uncertain significance |
| rs781541857 | 17:4,836,140 | T/C | — | pathogenic |
| rs767224320 | 17:4,836,146 | C/T | — | likely pathogenic |
| rs13306411 | 17:4,836,155 | C/T | — | benign |
| rs2507592184 | 17:4,836,183 | T/G | — | uncertain significance |
| rs2151107775 | 17:4,836,207 | A/G | — | uncertain significance |
| rs1970363834 | 17:4,836,215 | C/G | — | uncertain significance |
| rs776888187 | 17:4,836,220 | C/T | — | likely benign |
| rs2151107783 | 17:4,836,224 | C/A | — | uncertain significance |
| rs373756376 | 17:4,836,233 | G/C | — | uncertain significance |
| rs1597638598 | 17:4,836,243 | T/C | — | pathogenic |
| rs2507592346 | 17:4,836,275 | A/G | — | uncertain significance |
| rs749454966 | 17:4,836,279 | G/A | — | uncertain significance |
| rs181416431 | 17:4,836,289 | G/A | — | likely benign |
| rs1597638681 | 17:4,836,306 | T/C | — | likely pathogenic |
| rs761570928 | 17:4,836,309 | G/A | — | likely benign |
| rs1970365829 | 17:4,836,312 | G/T | — | likely pathogenic |
| rs80195769 | 17:4,836,319 | C/A | — | likely benign |
| rs771048666 | 17:4,836,333 | T/C | — | likely pathogenic |
| rs1597638745 | 17:4,836,348 | A/G | — | likely pathogenic |
| rs2151107851 | 17:4,836,362 | C/G | — | uncertain significance |
| rs6065 | 17:4,836,381 | C/T | missense variant | benign |
| rs753768072 | 17:4,836,398 | G/T | — | pathogenic |
| rs1396840938 | 17:4,836,400 | G/A | — | likely benign |
| rs121908065 | 17:4,836,414 | C/T | missense variant | pathogenic |
| rs2507592557 | 17:4,836,419 | A/G | — | uncertain significance |
| rs2151107892 | 17:4,836,450 | T/A | — | uncertain significance |
| rs753032168 | 17:4,836,451 | G/C | — | likely benign |
| rs373961465 | 17:4,836,469 | C/T | — | likely benign |
| rs779062552 | 17:4,836,470 | G/A | — | uncertain significance |
| rs368111193 | 17:4,836,479 | C/T | — | uncertain significance |
| rs2507592637 | 17:4,836,481 | C/T | — | likely benign |
| rs371226354 | 17:4,836,485 | C/T | — | uncertain significance |
| rs1567647945 | 17:4,836,487 | A/G | — | uncertain significance |
| rs770552079 | 17:4,836,496 | G/A | — | likely benign |
| rs1338793807 | 17:4,836,509 | C/T | — | uncertain significance |
| rs374770057 | 17:4,836,533 | C/T | — | uncertain significance |
| rs2507592721 | 17:4,836,537 | T/C | — | uncertain significance |
| rs574742436 | 17:4,836,556 | C/A | — | uncertain significance |
| rs374928728 | 17:4,836,557 | G/A | — | uncertain significance |
| rs764443652 | 17:4,836,561 | A/G | — | uncertain significance |
| rs1394634674 | 17:4,836,572 | T/A | — | pathogenic |
| rs2151107940 | 17:4,836,573 | G/C | — | pathogenic |
| rs2507592797 | 17:4,836,593 | T/A | — | uncertain significance |
| rs534164809 | 17:4,836,611 | G/A | — | uncertain significance |
| rs2507592828 | 17:4,836,614 | A/G | — | uncertain significance |
| rs200381725 | 17:4,836,631 | C/T | — | likely benign |
| rs1436997235 | 17:4,836,632 | G/A | — | uncertain significance |
| rs2151107964 | 17:4,836,636 | G/T | — | pathogenic |
| rs1597639057 | 17:4,836,644 | G/A | — | likely pathogenic |
| rs121908062 | 17:4,836,645 | G/A | missense variant | pathogenic |
| rs121908064 | 17:4,836,662 | A/G | missense variant | pathogenic |
| rs6066 | 17:4,836,673 | T/C | — | benign |
| rs749788312 | 17:4,836,674 | G/A | — | uncertain significance |
| rs765474118 | 17:4,836,692 | G/T | — | pathogenic |
| rs753648896 | 17:4,836,707 | T/C | — | uncertain significance |
| rs546035317 | 17:4,836,713 | G/A | — | uncertain significance |
| rs757006129 | 17:4,836,816 | G/A | — | uncertain significance |
| rs181987848 | 17:4,836,829 | T/C | — | likely benign |
| rs771260505 | 17:4,836,860 | A/G | — | uncertain significance |
| rs1970375220 | 17:4,836,872 | C/A | — | uncertain significance |
| rs1312683854 | 17:4,836,885 | G/A | — | pathogenic |
| rs2507593310 | 17:4,836,886 | G/A | — | likely pathogenic |
| rs1861321477 | 17:4,836,904 | C/T | — | likely benign |
| rs758238155 | 17:4,836,907 | C/G | — | uncertain significance |
| rs2507593413 | 17:4,836,951 | A/T | — | uncertain significance |
| rs886038266 | 17:4,836,967 | A/C | — | likely benign |
| rs6067 | 17:4,836,973 | A/G | — | benign |
| rs121908061 | 17:4,836,976 | G/A | stop gained | pathogenic |
| rs1000836753 | 17:4,837,007 | A/G | — | uncertain significance |
| rs371918202 | 17:4,837,015 | C/T | — | likely benign |
| rs2507593553 | 17:4,837,032 | C/T | — | uncertain significance |
| rs770923712 | 17:4,837,064 | T/C | — | likely benign |
| rs369052917 | 17:4,837,072 | C/T | — | likely benign |
| rs569872698 | 17:4,837,077 | C/T | — | uncertain significance |
| rs376266502 | 17:4,837,082 | C/T | — | uncertain significance |
Showing 100 of 150 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.