ADAMTS6
ADAM metallopeptidase with thrombospondin type 1 motif 6
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 enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4700076 | 5:64,444,070 | T/C | downstream gene variant | — |
| rs17206779 | 5:64,447,777 | C/A | — | — |
| rs715676 | 5:64,450,473 | A/T | intron variant | — |
| rs6449774 | 5:64,451,301 | G/T | — | — |
| rs7702887 | 5:64,451,583 | C/T | intron variant | — |
| rs1559256 | 5:64,452,205 | A/C | intron variant | — |
| rs13153005 | 5:64,460,096 | T/G | — | — |
| rs746386144 | 5:64,466,459 | T/C | — | uncertain significance |
| rs147530267 | 5:64,466,506 | C/T | — | uncertain significance |
| rs537343964 | 5:64,466,540 | C/G | — | uncertain significance |
| rs553801975 | 5:64,468,675 | G/A | — | likely benign |
| rs200963830 | 5:64,468,714 | C/T | — | uncertain significance |
| rs769190743 | 5:64,468,715 | G/A | — | uncertain significance |
| rs555737820 | 5:64,468,721 | G/C | — | uncertain significance |
| rs2478770894 | 5:64,468,769 | T/C | — | uncertain significance |
| rs768347461 | 5:64,468,785 | C/G | — | uncertain significance |
| rs1272612301 | 5:64,483,913 | C/T | — | likely pathogenic |
| rs562513614 | 5:64,483,962 | C/T | — | uncertain significance |
| rs143410831 | 5:64,484,026 | C/G | — | uncertain significance |
| rs371044151 | 5:64,511,285 | T/C | — | uncertain significance |
| rs77712043 | 5:64,520,165 | T/C | — | benign |
| rs780009571 | 5:64,520,837 | C/T | — | uncertain significance |
| rs79963379 | 5:64,520,851 | C/A | — | uncertain significance |
| rs2479179759 | 5:64,521,965 | C/G | — | uncertain significance |
| rs1460020361 | 5:64,522,040 | A/C | — | uncertain significance |
| rs13183791 | 5:64,534,641 | C/A | intron variant | — |
| rs2479295526 | 5:64,538,003 | C/G | — | uncertain significance |
| rs542293343 | 5:64,538,014 | C/T | — | uncertain significance |
| rs2479295830 | 5:64,538,017 | G/A | — | uncertain significance |
| rs78306713 | 5:64,542,378 | T/C | downstream gene variant | — |
| rs12517876 | 5:64,550,321 | A/G | upstream gene variant | — |
| rs146740454 | 5:64,556,482 | C/G | — | uncertain significance |
| rs2479508920 | 5:64,558,665 | A/C | — | uncertain significance |
| rs770501691 | 5:64,558,687 | C/G | — | uncertain significance |
| rs6449778 | 5:64,563,813 | G/A | intron variant | — |
| rs11743960 | 5:64,568,555 | C/T | intron variant | — |
| rs763265196 | 5:64,569,168 | C/T | — | uncertain significance |
| rs2479797356 | 5:64,587,236 | C/T | — | uncertain significance |
| rs369012760 | 5:64,587,272 | T/C | — | uncertain significance |
| rs372973372 | 5:64,595,833 | T/C | — | uncertain significance |
| rs1405548629 | 5:64,595,834 | C/A | — | uncertain significance |
| rs1048479889 | 5:64,595,863 | T/C | — | uncertain significance |
| rs1286258144 | 5:64,595,908 | T/C | — | uncertain significance |
| rs4323187 | 5:64,604,013 | T/C | intron variant | — |
| rs66724425 | 5:64,605,753 | T/C | intron variant | — |
| rs10514979 | 5:64,607,614 | G/A | — | — |
| rs1746493219 | 5:64,625,265 | C/T | — | uncertain significance |
| rs1746495590 | 5:64,625,281 | G/A | — | uncertain significance |
| rs2307121 | 5:64,625,512 | C/T | intron variant | — |
| rs10071507 | 5:64,638,339 | T/C | intron variant | — |
| rs16893717 | 5:64,644,871 | C/T | intron variant | — |
| rs13436243 | 5:64,652,495 | T/C | intron variant | — |
| rs185206692 | 5:64,671,126 | A/T | — | — |
| rs113391921 | 5:64,671,570 | C/T | intron variant | — |
| rs7716046 | 5:64,684,894 | G/T | intron variant | — |
| rs62370702 | 5:64,693,485 | C/T | intron variant | — |
| rs11960293 | 5:64,699,190 | A/T | intron variant | — |
| rs2480998302 | 5:64,748,047 | A/C | — | uncertain significance |
| rs1029123862 | 5:64,748,646 | C/T | — | uncertain significance |
| rs747043426 | 5:64,748,677 | T/C | — | uncertain significance |
| rs368191265 | 5:64,748,724 | G/A | — | likely benign |
| rs1561562833 | 5:64,756,020 | T/A | — | uncertain significance |
| rs141587320 | 5:64,756,164 | T/C | — | likely benign |
| rs750822269 | 5:64,766,630 | A/G | — | uncertain significance |
| rs2481096564 | 5:64,766,696 | T/G | — | uncertain significance |
| rs61736454 | 5:64,766,798 | G/A | — | likely benign |
| rs1760392240 | 5:64,766,823 | C/T | — | uncertain significance |
| rs1311465125 | 5:64,766,840 | A/C | — | uncertain significance |
| rs779066193 | 5:64,769,423 | C/A | — | uncertain significance |
| rs1433091136 | 5:64,769,465 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.