CR1
complement C3b/C4b receptor 1 (Knops blood group)
Summary
This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020]
Known Variants146 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7525160 | 1:207,668,414 | G/C | upstream gene variant | — |
| rs9429942 | 1:207,668,630 | C/T | upstream gene variant | — |
| rs148594025 | 1:207,670,388 | C/T | regulatory region variant | — |
| rs10863341 | 1:207,673,084 | A/C | — | — |
| rs4844599 | 1:207,679,229 | T/G | intron variant | — |
| rs774858867 | 1:207,679,275 | C/T | — | uncertain significance |
| rs4844600 | 1:207,679,307 | A/C | missense variant | — |
| rs11587944 | 1:207,680,070 | T/C | — | benign |
| rs3991748 | 1:207,680,102 | G/T | — | likely benign |
| rs376045736 | 1:207,680,110 | T/C | — | uncertain significance |
| rs530527104 | 1:207,682,274 | T/C | — | — |
| rs757524712 | 1:207,684,985 | C/T | — | uncertain significance |
| rs4266886 | 1:207,685,786 | T/C | upstream gene variant | — |
| rs111284400 | 1:207,687,796 | G/T | — | — |
| rs10863358 | 1:207,690,871 | G/A | — | — |
| rs61034679 | 1:207,691,993 | C/T | regulatory region variant | — |
| rs6656401 | 1:207,692,049 | A/T | — | — |
| rs577106531 | 1:207,693,471 | A/T | — | — |
| rs141870715 | 1:207,694,163 | G/T | regulatory region variant | — |
| rs116806486 | 1:207,696,985 | A/G | missense variant | — |
| rs377171662 | 1:207,696,997 | T/G | — | uncertain significance |
| rs1660068232 | 1:207,697,033 | T/G | — | uncertain significance |
| rs533647702 | 1:207,697,066 | G/A | — | likely benign |
| rs759020028 | 1:207,697,108 | T/C | — | uncertain significance |
| rs2527358015 | 1:207,697,256 | A/C | — | uncertain significance |
| rs2527358050 | 1:207,697,270 | C/T | — | uncertain significance |
| rs2527358059 | 1:207,697,272 | T/G | — | likely benign |
| rs201158082 | 1:207,697,278 | T/C | — | uncertain significance |
| rs528582284 | 1:207,697,283 | T/G | — | uncertain significance |
| rs199777103 | 1:207,697,297 | C/T | — | uncertain significance |
| rs377051799 | 1:207,697,298 | G/A | — | uncertain significance |
| rs371169282 | 1:207,697,317 | G/A | — | likely benign |
| rs151057565 | 1:207,697,532 | G/A | intron variant | — |
| rs138155833 | 1:207,698,087 | A/T | intron variant | — |
| rs2527365721 | 1:207,700,106 | C/T | — | uncertain significance |
| rs200399748 | 1:207,700,133 | C/T | — | conflicting classifications of pathogenicity |
| rs2527365946 | 1:207,700,189 | T/C | — | likely benign |
| rs755952223 | 1:207,700,201 | C/T | — | likely benign |
| rs1482836122 | 1:207,700,260 | C/T | — | uncertain significance |
| rs751182802 | 1:207,700,266 | C/G | — | likely benign |
| rs1312626897 | 1:207,700,425 | A/T | — | uncertain significance |
| rs771009691 | 1:207,707,637 | A/C | — | likely benign |
| rs1423483198 | 1:207,715,557 | C/T | — | uncertain significance |
| rs1037377565 | 1:207,715,826 | G/C | — | uncertain significance |
| rs1251529011 | 1:207,715,865 | C/T | — | uncertain significance |
| rs201738449 | 1:207,718,781 | C/A | — | likely benign |
| rs1160995265 | 1:207,718,834 | C/T | — | uncertain significance |
| rs534677578 | 1:207,736,678 | C/T | — | — |
| rs776512609 | 1:207,737,248 | C/A | — | uncertain significance |
| rs2527384455 | 1:207,737,262 | G/T | — | uncertain significance |
| rs56170518 | 1:207,737,276 | C/T | — | likely benign |
| rs755596402 | 1:207,737,311 | A/G | — | uncertain significance |
| rs201018148 | 1:207,737,338 | G/A | — | uncertain significance |
| rs1172333018 | 1:207,737,368 | C/T | — | uncertain significance |
| rs759642548 | 1:207,737,518 | C/T | — | uncertain significance |
| rs751935590 | 1:207,737,554 | A/G | — | uncertain significance |
| rs199990810 | 1:207,739,203 | C/T | — | conflicting classifications of pathogenicity |
| rs1348639928 | 1:207,739,230 | T/C | — | uncertain significance |
| rs201872183 | 1:207,739,256 | C/T | — | uncertain significance |
| rs771362085 | 1:207,741,180 | C/A | — | uncertain significance |
| rs368350236 | 1:207,741,195 | A/G | — | conflicting classifications of pathogenicity |
| rs201131753 | 1:207,741,210 | C/T | — | uncertain significance |
| rs781087630 | 1:207,741,240 | T/A | — | uncertain significance |
| rs571845275 | 1:207,741,267 | G/A | — | uncertain significance |
| rs370005351 | 1:207,741,289 | C/T | — | likely benign |
| rs777884906 | 1:207,741,297 | G/A | — | uncertain significance |
| rs374276678 | 1:207,741,322 | G/A | — | uncertain significance |
| rs746394762 | 1:207,741,373 | G/A | — | uncertain significance |
| rs763763079 | 1:207,748,962 | T/C | — | uncertain significance |
| rs679515 | 1:207,750,568 | T/A | — | — |
| rs1373648733 | 1:207,751,158 | T/C | — | uncertain significance |
| rs772782879 | 1:207,751,242 | C/A | — | uncertain significance |
| rs749316044 | 1:207,751,341 | G/A | — | uncertain significance |
| rs534561631 | 1:207,751,378 | C/T | — | likely benign |
| rs193112197 | 1:207,751,402 | T/C | — | uncertain significance |
| rs532533959 | 1:207,751,492 | G/A | — | uncertain significance |
| rs1660825619 | 1:207,751,537 | G/T | — | uncertain significance |
| rs614709 | 1:207,753,275 | T/A | — | — |
| rs2527427258 | 1:207,753,599 | C/G | — | uncertain significance |
| rs2274567 | 1:207,753,621 | A/G | missense variant | benign |
| rs1482459919 | 1:207,753,873 | T/A | — | uncertain significance |
| rs201880876 | 1:207,755,348 | C/T | — | benign |
| rs12034598 | 1:207,757,515 | A/C | — | — |
| rs779307539 | 1:207,758,035 | C/T | — | uncertain significance |
| rs2526267760 | 1:207,760,752 | A/G | — | uncertain significance |
| rs61734514 | 1:207,760,772 | A/G | — | benign |
| rs3737002 | 1:207,760,773 | C/T | missense variant | — |
| rs772924634 | 1:207,760,781 | A/G | — | uncertain significance |
| rs12144461 | 1:207,760,804 | T/C | — | benign |
| rs191896925 | 1:207,760,805 | G/A | — | likely benign |
| rs140566582 | 1:207,760,852 | G/A | — | conflicting classifications of pathogenicity |
| rs61734513 | 1:207,760,906 | T/C | — | likely benign |
| rs2526272011 | 1:207,762,037 | C/T | — | uncertain significance |
| rs763721189 | 1:207,762,055 | G/A | — | uncertain significance |
| rs764234936 | 1:207,762,061 | G/A | — | uncertain significance |
| rs146609866 | 1:207,762,179 | C/G | intron variant | — |
| rs150394184 | 1:207,766,257 | A/G | intron variant | — |
| rs115988205 | 1:207,780,585 | C/A | — | likely benign |
| rs749631959 | 1:207,780,633 | G/A | — | uncertain significance |
| rs761361183 | 1:207,780,666 | G/C | — | uncertain significance |
Showing 100 of 146 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.