MPIG6B
megakaryocyte and platelet inhibitory receptor G6b
Summary
This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1065356 | 6:31,687,008 | G/A | synonymous variant | — |
| rs1483726517 | 6:31,691,486 | G/C | — | uncertain significance |
| rs148282893 | 6:31,691,539 | C/A | — | likely benign |
| rs200855070 | 6:31,691,602 | G/A | — | uncertain significance |
| rs771879584 | 6:31,691,646 | T/C | — | likely benign |
| rs4947252 | 6:31,691,666 | C/A | — | benign |
| rs2151298946 | 6:31,691,677 | G/T | — | uncertain significance |
| rs1060505057 | 6:31,691,678 | C/A | stop gained | pathogenic |
| rs1807078259 | 6:31,691,691 | G/T | — | likely pathogenic |
| rs935669552 | 6:31,691,998 | G/A | — | pathogenic |
| rs530881306 | 6:31,692,381 | C/A | — | uncertain significance |
| rs11575845 | 6:31,692,386 | C/T | — | pathogenic |
| rs150417881 | 6:31,692,395 | C/T | — | likely benign |
| rs374895705 | 6:31,692,533 | C/G | — | uncertain significance |
| rs553018500 | 6:31,692,547 | C/G | — | likely benign |
| rs34741956 | 6:31,692,558 | C/T | — | likely pathogenic |
| rs202028572 | 6:31,692,579 | G/C | — | uncertain significance |
| rs1168082184 | 6:31,692,599 | C/T | — | uncertain significance |
| rs147600887 | 6:31,692,621 | G/T | — | uncertain significance |
| rs773836221 | 6:31,692,808 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.