ADAMTS3
ADAM metallopeptidase with thrombospondin type 1 motif 3
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]
Known Variants133 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201592611 | 4:73,148,884 | C/G | — | uncertain significance |
| rs2475856968 | 4:73,148,951 | C/T | — | uncertain significance |
| rs751135818 | 4:73,149,002 | G/A | — | uncertain significance |
| rs2475857086 | 4:73,149,014 | T/G | — | uncertain significance |
| rs35780102 | 4:73,149,028 | G/A | — | benign |
| rs527284540 | 4:73,149,082 | C/T | — | uncertain significance |
| rs779614342 | 4:73,149,101 | G/A | — | uncertain significance |
| rs148581726 | 4:73,149,106 | C/T | — | conflicting classifications of pathogenicity |
| rs1180119030 | 4:73,149,140 | C/T | — | uncertain significance |
| rs142937879 | 4:73,149,182 | G/A | — | conflicting classifications of pathogenicity |
| rs1233625815 | 4:73,149,212 | T/C | — | uncertain significance |
| rs35864003 | 4:73,149,251 | A/G | — | benign |
| rs114741266 | 4:73,149,288 | G/A | — | benign |
| rs762975880 | 4:73,149,300 | C/A | — | likely benign |
| rs201524333 | 4:73,149,358 | G/A | — | uncertain significance |
| rs777583366 | 4:73,149,367 | C/T | — | uncertain significance |
| rs770743867 | 4:73,149,377 | C/G | — | uncertain significance |
| rs768903779 | 4:73,149,395 | T/G | — | uncertain significance |
| rs376352933 | 4:73,154,470 | T/C | — | uncertain significance |
| rs764914499 | 4:73,154,500 | G/A | — | uncertain significance |
| rs2475864107 | 4:73,154,551 | C/T | — | uncertain significance |
| rs781162084 | 4:73,154,569 | C/T | — | uncertain significance |
| rs1718640685 | 4:73,156,625 | G/A | — | uncertain significance |
| rs143166648 | 4:73,156,678 | T/C | — | likely benign |
| rs1480032549 | 4:73,156,694 | G/C | — | uncertain significance |
| rs142781084 | 4:73,156,723 | T/C | — | uncertain significance |
| rs147391078 | 4:73,156,740 | A/G | — | likely benign |
| rs1718786075 | 4:73,161,378 | G/A | — | uncertain significance |
| rs1286958206 | 4:73,161,399 | A/C | — | uncertain significance |
| rs201097717 | 4:73,161,425 | T/C | — | uncertain significance |
| rs542110831 | 4:73,161,427 | G/T | — | uncertain significance |
| rs374979020 | 4:73,161,447 | G/A | — | uncertain significance |
| rs759621311 | 4:73,161,477 | G/A | — | uncertain significance |
| rs114448914 | 4:73,163,263 | T/C | intron variant | — |
| rs750121414 | 4:73,164,011 | G/A | — | uncertain significance |
| rs373387738 | 4:73,169,641 | A/G | — | uncertain significance |
| rs188872063 | 4:73,169,667 | G/A | — | likely benign |
| rs895342794 | 4:73,169,670 | G/T | — | uncertain significance |
| rs374084753 | 4:73,169,695 | A/G | — | uncertain significance |
| rs771401796 | 4:73,169,736 | C/A | — | likely benign |
| rs201380121 | 4:73,169,785 | T/C | — | uncertain significance |
| rs147265546 | 4:73,171,292 | T/C | intron variant | — |
| rs1189973715 | 4:73,171,745 | T/A | — | uncertain significance |
| rs10024487 | 4:73,175,093 | C/T | — | benign |
| rs758055493 | 4:73,175,208 | A/G | — | likely benign |
| rs369504290 | 4:73,176,843 | G/A | — | likely benign |
| rs771078910 | 4:73,178,023 | A/G | — | uncertain significance |
| rs1023671352 | 4:73,178,045 | A/T | — | uncertain significance |
| rs2475897843 | 4:73,178,053 | A/T | — | uncertain significance |
| rs140595148 | 4:73,178,081 | C/A | — | uncertain significance |
| rs775029148 | 4:73,178,159 | A/C | — | uncertain significance |
| rs150270324 | 4:73,178,175 | T/C | — | benign |
| rs375213929 | 4:73,178,188 | A/C | — | likely benign |
| rs1359140245 | 4:73,179,413 | G/A | — | uncertain significance |
| rs141374503 | 4:73,179,445 | C/T | missense variant | likely benign |
| rs146979323 | 4:73,179,446 | G/A | — | uncertain significance |
| rs138041073 | 4:73,179,462 | T/C | — | likely benign |
| rs748748836 | 4:73,179,503 | T/C | — | uncertain significance |
| rs772004057 | 4:73,181,568 | T/C | — | uncertain significance |
| rs139921635 | 4:73,181,637 | G/T | — | benign |
| rs374977549 | 4:73,181,646 | G/C | — | uncertain significance |
| rs751131607 | 4:73,184,290 | G/A | — | uncertain significance |
| rs2475909591 | 4:73,184,378 | G/C | — | uncertain significance |
| rs756853314 | 4:73,184,395 | G/A | — | uncertain significance |
| rs35584754 | 4:73,185,054 | A/G | — | likely benign |
| rs778717871 | 4:73,185,056 | A/C | — | uncertain significance |
| rs374705972 | 4:73,185,097 | C/T | — | uncertain significance |
| rs35860396 | 4:73,185,147 | C/T | — | benign |
| rs1560470876 | 4:73,185,154 | C/G | — | uncertain significance |
| rs2475911579 | 4:73,185,155 | C/A | — | uncertain significance |
| rs201105948 | 4:73,185,159 | C/T | — | likely benign |
| rs546543594 | 4:73,185,583 | C/T | — | likely benign |
| rs61741624 | 4:73,185,600 | C/T | — | benign |
| rs1440131553 | 4:73,185,612 | A/G | — | uncertain significance |
| rs778064580 | 4:73,185,664 | G/A | — | likely benign |
| rs141331151 | 4:73,185,672 | G/A | — | uncertain significance |
| rs778138383 | 4:73,186,443 | C/T | — | uncertain significance |
| rs147111615 | 4:73,186,462 | G/C | — | likely benign |
| rs960880721 | 4:73,186,503 | G/C | — | uncertain significance |
| rs147002650 | 4:73,186,516 | C/T | — | likely benign |
| rs138352532 | 4:73,186,525 | C/T | — | likely benign |
| rs61757480 | 4:73,188,804 | A/G | — | pathogenic |
| rs200345422 | 4:73,188,818 | G/A | — | benign |
| rs201628279 | 4:73,188,819 | C/A | — | benign |
| rs7690711 | 4:73,205,253 | G/T | — | benign |
| rs1017254734 | 4:73,205,297 | C/T | — | uncertain significance |
| rs2475951955 | 4:73,205,311 | T/C | — | uncertain significance |
| rs773336445 | 4:73,205,320 | G/T | — | uncertain significance |
| rs1444827098 | 4:73,205,360 | G/C | — | likely benign |
| rs373627945 | 4:73,205,382 | T/G | — | likely benign |
| rs1408514126 | 4:73,205,393 | G/A | — | uncertain significance |
| rs142882327 | 4:73,207,651 | A/G | intron variant | — |
| rs181222568 | 4:73,232,993 | C/T | intron variant | — |
| rs16847865 | 4:73,256,856 | T/A | — | — |
| rs72852050 | 4:73,280,525 | C/T | — | likely benign |
| rs774033658 | 4:73,280,535 | T/C | — | uncertain significance |
| rs79141408 | 4:73,280,538 | A/G | — | benign |
| rs146381789 | 4:73,280,556 | T/C | — | uncertain significance |
| rs184919879 | 4:73,280,583 | A/C | — | uncertain significance |
| rs771017077 | 4:73,280,591 | T/C | — | uncertain significance |
Showing 100 of 133 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.