ADAMTS12
ADAM metallopeptidase with thrombospondin type 1 motif 12
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-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]
Known Variants120 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143446153 | 5:33,527,331 | T/C | — | uncertain significance |
| rs256603 | 5:33,530,529 | C/A | — | — |
| rs256792 | 5:33,531,645 | C/T | intron variant | — |
| rs766267057 | 5:33,534,991 | G/C | — | uncertain significance |
| rs79764295 | 5:33,534,994 | T/C | — | benign |
| rs762532361 | 5:33,535,016 | C/T | — | uncertain significance |
| rs764783108 | 5:33,546,165 | A/T | — | uncertain significance |
| rs777936614 | 5:33,546,201 | T/G | — | uncertain significance |
| rs373290882 | 5:33,549,377 | G/A | — | uncertain significance |
| rs190885023 | 5:33,549,383 | T/C | — | uncertain significance |
| rs1397116841 | 5:33,549,431 | G/A | — | uncertain significance |
| rs61757473 | 5:33,549,435 | G/C | — | likely benign |
| rs1198248830 | 5:33,549,476 | A/C | — | uncertain significance |
| rs183308563 | 5:33,561,191 | G/C | — | uncertain significance |
| rs764129116 | 5:33,561,211 | G/A | — | uncertain significance |
| rs750118465 | 5:33,561,242 | C/G | — | uncertain significance |
| rs749864170 | 5:33,561,260 | C/T | — | uncertain significance |
| rs1746694284 | 5:33,576,197 | G/T | — | uncertain significance |
| rs1404984152 | 5:33,576,271 | T/G | — | uncertain significance |
| rs751950320 | 5:33,576,308 | T/C | — | uncertain significance |
| rs1247275716 | 5:33,576,325 | A/T | — | uncertain significance |
| rs1267252726 | 5:33,576,398 | C/T | — | uncertain significance |
| rs189970267 | 5:33,576,401 | G/C | — | uncertain significance |
| rs753978117 | 5:33,576,422 | C/T | — | uncertain significance |
| rs2477938618 | 5:33,576,445 | G/T | — | uncertain significance |
| rs2477938832 | 5:33,576,476 | C/T | — | uncertain significance |
| rs1280826043 | 5:33,576,482 | T/C | — | uncertain significance |
| rs76104812 | 5:33,576,529 | G/A | — | benign |
| rs780097462 | 5:33,576,547 | G/A | — | uncertain significance |
| rs751419369 | 5:33,576,560 | T/C | — | uncertain significance |
| rs561897729 | 5:33,576,634 | G/T | — | uncertain significance |
| rs750560956 | 5:33,576,650 | C/T | — | uncertain significance |
| rs375897060 | 5:33,576,725 | T/C | — | likely benign |
| rs1329126221 | 5:33,576,737 | A/G | — | uncertain significance |
| rs371409097 | 5:33,576,785 | C/T | — | uncertain significance |
| rs149776016 | 5:33,576,787 | G/A | — | uncertain significance |
| rs147475707 | 5:33,576,810 | G/A | — | likely benign |
| rs756622341 | 5:33,576,938 | T/G | — | uncertain significance |
| rs760619167 | 5:33,576,998 | T/C | — | uncertain significance |
| rs751051981 | 5:33,577,024 | G/A | — | likely benign |
| rs112153103 | 5:33,577,058 | G/A | — | uncertain significance |
| rs200227813 | 5:33,577,067 | C/T | — | likely benign |
| rs61748196 | 5:33,577,096 | T/C | — | benign |
| rs373563822 | 5:33,577,108 | C/T | — | uncertain significance |
| rs762526782 | 5:33,577,109 | C/T | — | uncertain significance |
| rs2477943859 | 5:33,577,115 | T/C | — | uncertain significance |
| rs755107170 | 5:33,577,168 | C/T | — | uncertain significance |
| rs146681965 | 5:33,577,193 | C/A | — | uncertain significance |
| rs377084884 | 5:33,577,199 | G/T | — | uncertain significance |
| rs1453217424 | 5:33,577,247 | C/A | — | uncertain significance |
| rs6895632 | 5:33,586,675 | G/A | intron variant | — |
| rs1747480008 | 5:33,588,743 | G/C | — | uncertain significance |
| rs2477988743 | 5:33,588,772 | T/G | — | uncertain significance |
| rs768132388 | 5:33,588,817 | C/T | — | uncertain significance |
| rs2477989116 | 5:33,588,828 | A/G | — | uncertain significance |
| rs767302503 | 5:33,596,081 | T/C | — | uncertain significance |
| rs753507855 | 5:33,596,099 | T/C | — | uncertain significance |
| rs113806862 | 5:33,596,126 | C/T | — | benign |
| rs148278677 | 5:33,596,127 | G/A | — | uncertain significance |
| rs1337803639 | 5:33,614,366 | T/C | — | uncertain significance |
| rs1738978548 | 5:33,615,958 | G/A | — | uncertain significance |
| rs541021370 | 5:33,615,961 | C/G | — | uncertain significance |
| rs1227802601 | 5:33,616,069 | T/C | — | uncertain significance |
| rs2478104731 | 5:33,616,072 | T/G | — | uncertain significance |
| rs759606612 | 5:33,616,094 | T/C | — | uncertain significance |
| rs2478105448 | 5:33,616,153 | G/A | — | uncertain significance |
| rs74710969 | 5:33,618,142 | G/T | intron variant | — |
| rs34333679 | 5:33,624,496 | G/A | intron variant | — |
| rs2478181184 | 5:33,630,907 | A/G | — | uncertain significance |
| rs150961483 | 5:33,630,994 | C/T | — | uncertain significance |
| rs6868223 | 5:33,636,594 | G/C | — | — |
| rs577499435 | 5:33,637,685 | G/T | — | uncertain significance |
| rs1179437141 | 5:33,637,765 | G/T | — | uncertain significance |
| rs761157092 | 5:33,637,810 | C/T | — | uncertain significance |
| rs756550892 | 5:33,637,838 | C/T | — | uncertain significance |
| rs567131825 | 5:33,641,994 | G/A | — | uncertain significance |
| rs759738672 | 5:33,643,532 | C/T | — | uncertain significance |
| rs143654915 | 5:33,643,533 | G/A | — | uncertain significance |
| rs138321976 | 5:33,643,548 | C/T | — | uncertain significance |
| rs1740775838 | 5:33,648,975 | C/G | — | uncertain significance |
| rs766960493 | 5:33,648,991 | T/C | — | uncertain significance |
| rs752212154 | 5:33,649,001 | C/T | — | uncertain significance |
| rs201968522 | 5:33,649,069 | C/T | — | uncertain significance |
| rs550821902 | 5:33,649,731 | C/T | — | uncertain significance |
| rs2478255172 | 5:33,649,734 | G/A | — | uncertain significance |
| rs1741128271 | 5:33,658,293 | G/A | — | uncertain significance |
| rs374530455 | 5:33,658,328 | A/G | — | uncertain significance |
| rs74737607 | 5:33,658,333 | C/T | — | benign |
| rs941207284 | 5:33,658,347 | T/C | — | uncertain significance |
| rs761035466 | 5:33,658,359 | G/A | — | uncertain significance |
| rs1741131829 | 5:33,658,386 | G/T | — | uncertain significance |
| rs78871731 | 5:33,662,044 | G/A | — | likely benign |
| rs377143805 | 5:33,662,047 | A/G | — | likely benign |
| rs2478295471 | 5:33,662,049 | G/T | — | uncertain significance |
| rs1205864362 | 5:33,662,096 | C/T | — | uncertain significance |
| rs780005218 | 5:33,683,134 | C/T | — | uncertain significance |
| rs61754760 | 5:33,683,148 | C/T | — | uncertain significance |
| rs1443994239 | 5:33,683,977 | G/A | — | uncertain significance |
| rs10052345 | 5:33,684,006 | C/T | — | benign |
| rs760239542 | 5:33,684,038 | C/A | — | uncertain significance |
Showing 100 of 120 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.