GYPC
glycophorin C (Gerbich blood group)
Summary
Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4143020 | 2:127,413,616 | G/A | — | benign |
| rs121912760 | 2:127,413,862 | A/G | missense variant | affects |
| rs121912761 | 2:127,413,879 | C/T | missense variant | affects |
| rs768999843 | 2:127,413,883 | G/A | — | uncertain significance |
| rs781592312 | 2:127,413,885 | C/T | — | uncertain significance |
| rs4663039 | 2:127,423,075 | G/A | intron variant | — |
| rs28387111 | 2:127,424,539 | C/T | intron variant | — |
| rs28387129 | 2:127,427,673 | C/T | intron variant | — |
| rs28387148 | 2:127,433,465 | C/T | upstream gene variant | — |
| rs6709803 | 2:127,447,763 | G/A | — | benign |
| rs143216051 | 2:127,447,840 | C/T | — | likely benign |
| rs56070638 | 2:127,447,841 | G/A | — | likely benign |
| rs779263082 | 2:127,451,414 | C/T | — | uncertain significance |
| rs367719773 | 2:127,451,437 | C/T | — | uncertain significance |
| rs2467357134 | 2:127,451,442 | C/A | — | uncertain significance |
| rs139780142 | 2:127,451,467 | C/G | — | uncertain significance |
| rs114199197 | 2:127,451,481 | G/A | — | uncertain significance |
| rs375846126 | 2:127,451,483 | G/C | — | uncertain significance |
| rs531807314 | 2:127,451,491 | C/T | — | uncertain significance |
| rs563789567 | 2:127,451,500 | T/A | — | uncertain significance |
| rs139849196 | 2:127,451,505 | G/A | — | uncertain significance |
| rs1390316429 | 2:127,451,512 | T/C | — | likely benign |
| rs28387219 | 2:127,451,531 | C/G | — | benign |
| rs112712087 | 2:127,451,679 | G/C | intron variant | — |
| rs1530147 | 2:127,453,261 | A/C | — | benign |
| rs1968539 | 2:127,453,301 | C/T | — | benign |
| rs1530148 | 2:127,453,386 | T/C | — | benign |
| rs4538146 | 2:127,453,479 | G/A | — | benign |
| rs762904499 | 2:127,453,525 | T/C | — | uncertain significance |
| rs1173093719 | 2:127,453,529 | T/G | — | uncertain significance |
| rs753887364 | 2:127,453,542 | A/G | — | uncertain significance |
| rs115201071 | 2:127,453,543 | T/C | — | likely benign |
| rs200879714 | 2:127,453,545 | G/A | — | uncertain significance |
| rs150219760 | 2:127,453,566 | G/A | — | uncertain significance |
| rs769463770 | 2:127,453,575 | C/T | — | uncertain significance |
| rs115178969 | 2:127,453,579 | A/G | — | uncertain significance |
| rs143080607 | 2:127,453,585 | A/T | — | uncertain significance |
| rs139816143 | 2:127,453,588 | G/A | — | uncertain significance |
| rs200062204 | 2:127,453,593 | A/C | — | uncertain significance |
| rs151167334 | 2:127,453,600 | C/T | — | uncertain significance |
| rs149925576 | 2:127,453,627 | C/T | — | uncertain significance |
| rs1050967 | 2:127,453,664 | A/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.