CD36
CD36 molecule (CD36 blood group)
Summary
The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]
Known Variants190 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2065666 | 7:80,230,807 | G/A | — | — |
| rs1194182 | 7:80,231,504 | G/C | — | benign |
| rs886062448 | 7:80,231,554 | G/A | — | uncertain significance |
| rs886062449 | 7:80,231,582 | G/A | — | uncertain significance |
| rs190767214 | 7:80,231,592 | G/A | — | uncertain significance |
| rs886062450 | 7:80,231,593 | C/A | — | uncertain significance |
| rs151218598 | 7:80,231,668 | C/T | — | uncertain significance |
| rs539733007 | 7:80,231,670 | C/T | — | uncertain significance |
| rs886062451 | 7:80,231,671 | C/T | — | uncertain significance |
| rs1792285972 | 7:80,231,673 | A/C | — | uncertain significance |
| rs182279912 | 7:80,231,686 | C/G | — | uncertain significance |
| rs1455351951 | 7:80,231,693 | T/G | — | uncertain significance |
| rs17154155 | 7:80,234,243 | G/A | — | — |
| rs13236689 | 7:80,236,014 | T/G | intron variant | — |
| rs60854150 | 7:80,237,364 | G/A | intron variant | — |
| rs139200471 | 7:80,237,532 | A/C | intron variant | — |
| rs1984112 | 7:80,242,920 | A/G | intron variant | risk factor |
| rs1761667 | 7:80,244,939 | G/A | upstream gene variant | benign |
| rs60133848 | 7:80,248,322 | C/A | intron variant | — |
| rs74524365 | 7:80,249,950 | A/T | intron variant | — |
| rs11770907 | 7:80,258,630 | G/A | intron variant | — |
| rs10499859 | 7:80,258,810 | A/G | intron variant | — |
| rs12234728 | 7:80,265,308 | C/T | intron variant | — |
| rs57886147 | 7:80,266,042 | A/G | — | — |
| rs1334512 | 7:80,267,904 | G/A | — | — |
| rs117400587 | 7:80,270,570 | G/T | regulatory region variant | — |
| rs13233631 | 7:80,270,822 | A/G | intron variant | — |
| rs1527479 | 7:80,272,568 | T/C | intron variant | — |
| rs532897983 | 7:80,275,437 | T/A | — | uncertain significance |
| rs1049654 | 7:80,275,455 | C/A | — | benign |
| rs2116401113 | 7:80,275,967 | G/A | — | uncertain significance |
| rs768286621 | 7:80,276,030 | C/T | — | uncertain significance |
| rs201759988 | 7:80,276,061 | G/T | — | uncertain significance |
| rs752841786 | 7:80,276,069 | C/T | — | uncertain significance |
| rs13306227 | 7:80,276,070 | G/A | — | uncertain significance |
| rs778170886 | 7:80,276,099 | A/C | — | uncertain significance |
| rs778587030 | 7:80,276,100 | T/C | — | uncertain significance |
| rs746085102 | 7:80,276,108 | G/A | — | likely benign |
| rs751471043 | 7:80,276,177 | G/A | — | pathogenic |
| rs1527463 | 7:80,276,331 | C/T | — | benign |
| rs3211809 | 7:80,276,494 | G/A | — | benign |
| rs577611417 | 7:80,281,179 | C/T | — | — |
| rs3173798 | 7:80,285,850 | T/C | splice region variant | benign |
| rs780265725 | 7:80,285,878 | C/T | — | uncertain significance |
| rs144344249 | 7:80,285,893 | A/G | — | likely benign |
| rs886062452 | 7:80,285,894 | T/C | — | uncertain significance |
| rs748289963 | 7:80,285,896 | G/A | — | likely pathogenic |
| rs574416705 | 7:80,285,921 | C/G | — | likely pathogenic |
| rs1562801820 | 7:80,285,934 | A/G | — | uncertain significance |
| rs780279531 | 7:80,285,937 | T/G | — | uncertain significance |
| rs545489204 | 7:80,285,955 | C/T | — | conflicting classifications of pathogenicity |
| rs1481852991 | 7:80,285,999 | A/T | — | uncertain significance |
| rs374729345 | 7:80,286,000 | G/T | — | uncertain significance |
| rs75326924 | 7:80,286,003 | C/T | missense variant | pathogenic |
| rs150037612 | 7:80,286,010 | C/T | — | uncertain significance |
| rs1796118367 | 7:80,286,016 | G/A | — | uncertain significance |
| rs11574703 | 7:80,286,908 | T/C | downstream gene variant | — |
| rs3211867 | 7:80,286,940 | C/A | downstream gene variant | benign |
| rs3211875 | 7:80,287,869 | C/G | downstream gene variant | — |
| rs3211883 | 7:80,289,043 | A/T | regulatory region variant | — |
| rs3173799 | 7:80,289,765 | A/G | downstream gene variant | — |
| rs754938089 | 7:80,290,365 | T/A | — | uncertain significance |
| rs3211892 | 7:80,290,369 | A/G | downstream gene variant | benign |
| rs70961715 | 7:80,290,384 | G/C | — | uncertain significance |
| rs146796766 | 7:80,290,415 | C/T | — | uncertain significance |
| rs140528748 | 7:80,290,450 | A/G | — | uncertain significance |
| rs1250857302 | 7:80,290,452 | G/T | — | uncertain significance |
| rs145624370 | 7:80,290,459 | T/C | — | uncertain significance |
| rs183461468 | 7:80,290,464 | G/A | missense variant | — |
| rs886062453 | 7:80,290,471 | C/T | — | uncertain significance |
| rs201765331 | 7:80,290,477 | C/G | — | likely pathogenic |
| rs148114593 | 7:80,290,487 | A/T | — | conflicting classifications of pathogenicity |
| rs368789777 | 7:80,290,498 | A/T | — | uncertain significance |
| rs140968958 | 7:80,290,500 | T/C | — | uncertain significance |
| rs747515126 | 7:80,290,502 | C/G | — | uncertain significance |
| rs2272350 | 7:80,290,507 | T/C | — | uncertain significance |
| rs2535775801 | 7:80,290,521 | G/A | — | uncertain significance |
| rs773314523 | 7:80,290,524 | G/T | — | uncertain significance |
| rs3211893 | 7:80,290,528 | T/C | splice region variant | pathogenic |
| rs753625642 | 7:80,290,531 | G/T | — | uncertain significance |
| rs371196837 | 7:80,290,541 | A/G | — | uncertain significance |
| rs3211899 | 7:80,292,034 | A/G | — | benign |
| rs3211901 | 7:80,292,304 | A/G | — | likely pathogenic |
| rs199530093 | 7:80,292,305 | G/C | — | pathogenic |
| rs573439520 | 7:80,292,319 | T/A | — | uncertain significance |
| rs543785881 | 7:80,292,332 | A/G | — | uncertain significance |
| rs201801344 | 7:80,292,367 | A/G | — | uncertain significance |
| rs1381104819 | 7:80,292,399 | T/G | — | likely benign |
| rs966002749 | 7:80,292,410 | G/C | — | likely benign |
| rs138897347 | 7:80,292,426 | G/A | — | conflicting classifications of pathogenicity |
| rs142698840 | 7:80,292,429 | C/A | — | uncertain significance |
| rs143150225 | 7:80,292,448 | C/T | — | uncertain significance |
| rs5956 | 7:80,292,449 | G/A | synonymous variant | uncertain significance |
| rs760233317 | 7:80,292,456 | G/T | — | uncertain significance |
| rs757827176 | 7:80,292,466 | C/T | — | uncertain significance |
| rs141680676 | 7:80,292,467 | A/T | synonymous variant | uncertain significance |
| rs1796699020 | 7:80,292,477 | T/C | — | uncertain significance |
| rs755124649 | 7:80,292,486 | G/A | — | conflicting classifications of pathogenicity |
| rs185913608 | 7:80,293,717 | T/C | — | conflicting classifications of pathogenicity |
| rs745604189 | 7:80,293,720 | A/G | — | conflicting classifications of pathogenicity |
Showing 100 of 190 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.