STAB1
stabilin 1
Summary
This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]
Known Variants225 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6787493 | 3:52,528,000 | T/C | downstream gene variant | — |
| rs9863753 | 3:52,529,899 | A/G | — | — |
| rs13326165 | 3:52,532,118 | A/T | — | — |
| rs116768072 | 3:52,534,803 | C/T | intron variant | — |
| rs1708421237 | 3:52,535,270 | C/T | — | uncertain significance |
| rs151119695 | 3:52,535,284 | C/T | — | uncertain significance |
| rs141187010 | 3:52,535,285 | G/A | — | uncertain significance |
| rs756066399 | 3:52,535,677 | C/G | — | uncertain significance |
| rs368959169 | 3:52,535,733 | G/A | — | uncertain significance |
| rs146810774 | 3:52,535,760 | C/T | — | uncertain significance |
| rs138055453 | 3:52,535,766 | C/T | missense variant | — |
| rs1234235491 | 3:52,536,030 | G/A | — | uncertain significance |
| rs143159509 | 3:52,536,036 | G/A | — | uncertain significance |
| rs139338725 | 3:52,536,216 | C/T | — | likely benign |
| rs2471550760 | 3:52,536,221 | G/A | — | uncertain significance |
| rs890019652 | 3:52,536,226 | G/A | — | uncertain significance |
| rs140965743 | 3:52,536,664 | C/T | — | benign |
| rs529063889 | 3:52,536,687 | G/A | — | uncertain significance |
| rs138643169 | 3:52,537,010 | C/T | — | likely benign |
| rs140603553 | 3:52,537,086 | T/A | — | uncertain significance |
| rs148910759 | 3:52,537,170 | G/A | intron variant | — |
| rs777541715 | 3:52,537,380 | T/C | — | uncertain significance |
| rs184669399 | 3:52,537,408 | C/G | — | uncertain significance |
| rs2471557395 | 3:52,537,522 | A/G | — | uncertain significance |
| rs2471557423 | 3:52,537,528 | C/T | — | uncertain significance |
| rs558804551 | 3:52,537,550 | G/A | — | likely benign |
| rs747277163 | 3:52,537,565 | G/C | — | likely benign |
| rs754318051 | 3:52,538,063 | G/A | — | affects |
| rs756954402 | 3:52,538,090 | G/A | — | uncertain significance |
| rs142146352 | 3:52,538,105 | G/A | — | uncertain significance |
| rs139767173 | 3:52,538,108 | G/A | — | uncertain significance |
| rs921204169 | 3:52,538,118 | C/T | — | uncertain significance |
| rs768708874 | 3:52,538,121 | C/T | — | uncertain significance |
| rs773785611 | 3:52,538,159 | G/A | — | uncertain significance |
| rs192695654 | 3:52,538,331 | C/T | intron variant | — |
| rs183616935 | 3:52,538,367 | A/C | intron variant | — |
| rs200617606 | 3:52,538,488 | C/T | — | uncertain significance |
| rs768179309 | 3:52,538,872 | G/A | — | uncertain significance |
| rs747904411 | 3:52,538,891 | C/T | — | uncertain significance |
| rs759568021 | 3:52,539,056 | C/T | — | uncertain significance |
| rs373323793 | 3:52,539,106 | G/A | — | uncertain significance |
| rs143005034 | 3:52,539,369 | C/T | — | likely benign |
| rs780169030 | 3:52,539,378 | G/A | — | uncertain significance |
| rs1578370891 | 3:52,539,392 | C/G | — | uncertain significance |
| rs745795585 | 3:52,539,395 | G/A | missense variant | — |
| rs111466273 | 3:52,539,677 | A/G | — | benign |
| rs149734247 | 3:52,539,765 | C/T | — | uncertain significance |
| rs201452924 | 3:52,539,788 | C/T | — | likely benign |
| rs150259424 | 3:52,540,192 | G/A | — | uncertain significance |
| rs565563207 | 3:52,540,240 | G/T | — | uncertain significance |
| rs371386380 | 3:52,540,256 | T/C | — | uncertain significance |
| rs548554370 | 3:52,540,729 | G/A | — | uncertain significance |
| rs781466503 | 3:52,540,763 | C/T | — | uncertain significance |
| rs200673625 | 3:52,540,769 | A/G | — | uncertain significance |
| rs1010553 | 3:52,540,773 | T/C | synonymous variant | — |
| rs768966205 | 3:52,540,774 | G/A | — | uncertain significance |
| rs539676327 | 3:52,540,786 | C/G | — | uncertain significance |
| rs141322414 | 3:52,540,809 | G/A | — | benign |
| rs766446499 | 3:52,541,671 | C/G | — | uncertain significance |
| rs755098607 | 3:52,541,675 | C/A | — | likely benign |
| rs147036048 | 3:52,542,291 | A/T | — | uncertain significance |
| rs374832754 | 3:52,542,304 | A/C | — | uncertain significance |
| rs771078428 | 3:52,543,302 | C/T | — | uncertain significance |
| rs2471589717 | 3:52,543,889 | G/A | — | uncertain significance |
| rs768847782 | 3:52,543,912 | G/A | — | uncertain significance |
| rs577562484 | 3:52,543,924 | G/A | — | uncertain significance |
| rs201959289 | 3:52,543,976 | G/C | — | uncertain significance |
| rs114506140 | 3:52,544,155 | C/T | — | benign |
| rs373847695 | 3:52,544,162 | C/T | — | uncertain significance |
| rs753063801 | 3:52,544,226 | C/T | — | uncertain significance |
| rs2471592032 | 3:52,544,374 | G/A | — | uncertain significance |
| rs1210770686 | 3:52,544,416 | G/A | — | uncertain significance |
| rs200964966 | 3:52,544,455 | G/A | — | uncertain significance |
| rs200436621 | 3:52,544,491 | G/A | — | uncertain significance |
| rs542267152 | 3:52,544,879 | G/A | — | — |
| rs780738745 | 3:52,545,672 | T/C | — | uncertain significance |
| rs201709604 | 3:52,545,756 | G/A | — | uncertain significance |
| rs771622882 | 3:52,546,366 | C/T | — | uncertain significance |
| rs139982052 | 3:52,546,372 | G/T | — | uncertain significance |
| rs1709357365 | 3:52,546,373 | T/G | — | uncertain significance |
| rs368867105 | 3:52,546,375 | G/C | — | uncertain significance |
| rs140050809 | 3:52,546,403 | C/A | — | likely benign |
| rs1034164640 | 3:52,546,418 | G/A | — | uncertain significance |
| rs557278439 | 3:52,546,451 | G/A | — | likely benign |
| rs958492116 | 3:52,546,620 | G/C | — | uncertain significance |
| rs138333619 | 3:52,546,867 | C/T | — | likely benign |
| rs150311081 | 3:52,546,872 | G/A | — | benign |
| rs537312043 | 3:52,546,875 | G/A | — | uncertain significance |
| rs201907258 | 3:52,546,895 | T/C | — | uncertain significance |
| rs577144426 | 3:52,546,898 | G/A | — | uncertain significance |
| rs141381639 | 3:52,546,910 | C/T | — | uncertain significance |
| rs747988562 | 3:52,546,925 | G/A | — | uncertain significance |
| rs1709400613 | 3:52,546,940 | T/C | — | uncertain significance |
| rs757442795 | 3:52,546,956 | C/T | — | likely benign |
| rs553345383 | 3:52,546,962 | C/T | — | uncertain significance |
| rs774375422 | 3:52,547,174 | G/A | — | uncertain significance |
| rs773919055 | 3:52,547,189 | C/T | — | uncertain significance |
| rs771989070 | 3:52,547,238 | A/G | — | uncertain significance |
| rs919440498 | 3:52,547,243 | C/T | — | uncertain significance |
| rs1709428313 | 3:52,547,255 | G/A | — | uncertain significance |
Showing 100 of 225 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.