ADAM33
ADAM metallopeptidase domain 33
Summary
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs512625 | 20:3,648,378 | A/T | — | — |
| rs2787093 | 20:3,648,462 | C/T | upstream gene variant | — |
| rs2787094 | 20:3,649,161 | C/G | 3 prime UTR variant | — |
| rs677044 | 20:3,649,431 | A/G | 3 prime UTR variant | — |
| rs543749 | 20:3,649,679 | G/T | intron variant | — |
| rs628977 | 20:3,649,721 | T/C | intron variant | — |
| rs678881 | 20:3,649,803 | G/A | — | — |
| rs200612795 | 20:3,649,994 | T/A | — | uncertain significance |
| rs2280089 | 20:3,650,127 | G/A | intron variant | — |
| rs2280090 | 20:3,650,205 | G/A | missense variant | — |
| rs2280091 | 20:3,650,234 | A/G | missense variant | — |
| rs145743069 | 20:3,650,245 | G/A | — | benign |
| rs147783607 | 20:3,650,257 | G/A | — | likely benign |
| rs574174 | 20:3,650,694 | C/T | intron variant | — |
| rs597980 | 20:3,651,165 | G/A | regulatory region variant | — |
| rs44707 | 20:3,651,226 | G/C | — | — |
| rs598418 | 20:3,651,269 | G/A | regulatory region variant | — |
| rs2853209 | 20:3,651,472 | T/A | regulatory region variant | — |
| rs1186574586 | 20:3,651,681 | C/T | — | uncertain significance |
| rs762797694 | 20:3,651,692 | C/T | — | likely benign |
| rs370437901 | 20:3,651,716 | C/T | — | uncertain significance |
| rs528557 | 20:3,651,742 | C/G | synonymous variant | — |
| rs3918396 | 20:3,651,765 | C/T | missense variant | uncertain significance |
| rs2514721967 | 20:3,651,775 | C/T | — | uncertain significance |
| rs148007711 | 20:3,651,791 | G/T | — | conflicting classifications of pathogenicity |
| rs761702883 | 20:3,651,794 | T/A | — | uncertain significance |
| rs201057173 | 20:3,651,931 | T/G | — | uncertain significance |
| rs368984072 | 20:3,652,068 | C/A | — | uncertain significance |
| rs612709 | 20:3,652,207 | G/A | intron variant | — |
| rs779762942 | 20:3,652,313 | C/T | — | uncertain significance |
| rs202196209 | 20:3,652,314 | G/A | — | uncertain significance |
| rs55687415 | 20:3,652,365 | T/C | — | benign |
| rs376580891 | 20:3,652,392 | C/T | — | uncertain significance |
| rs766044302 | 20:3,652,546 | G/C | — | uncertain significance |
| rs1323393175 | 20:3,652,553 | G/C | — | uncertain significance |
| rs765009386 | 20:3,652,554 | C/A | — | uncertain significance |
| rs368426511 | 20:3,652,611 | G/A | — | uncertain significance |
| rs147463992 | 20:3,652,615 | C/T | — | uncertain significance |
| rs776168462 | 20:3,652,795 | T/A | — | uncertain significance |
| rs745350807 | 20:3,652,806 | C/G | — | uncertain significance |
| rs534541783 | 20:3,652,820 | G/A | — | uncertain significance |
| rs615436 | 20:3,652,835 | A/G | missense variant | benign |
| rs751899277 | 20:3,652,861 | G/C | — | uncertain significance |
| rs757800807 | 20:3,652,862 | G/T | — | uncertain significance |
| rs769288537 | 20:3,652,873 | A/G | — | uncertain significance |
| rs41525645 | 20:3,652,881 | A/T | — | benign |
| rs1242878320 | 20:3,652,942 | A/G | — | uncertain significance |
| rs373400112 | 20:3,653,213 | C/T | — | likely benign |
| rs11908384 | 20:3,653,223 | C/T | — | benign |
| rs752235381 | 20:3,653,267 | G/C | — | uncertain significance |
| rs777907426 | 20:3,653,393 | T/C | — | uncertain significance |
| rs562390090 | 20:3,653,419 | G/A | — | likely benign |
| rs2514751628 | 20:3,653,421 | A/G | — | uncertain significance |
| rs368111293 | 20:3,653,423 | A/G | — | uncertain significance |
| rs763576729 | 20:3,653,424 | G/A | — | uncertain significance |
| rs1289160601 | 20:3,653,477 | C/T | — | uncertain significance |
| rs769182478 | 20:3,653,481 | C/A | — | uncertain significance |
| rs374872342 | 20:3,653,486 | C/A | — | uncertain significance |
| rs3918394 | 20:3,653,495 | G/A | — | likely benign |
| rs2087698401 | 20:3,654,086 | T/C | — | uncertain significance |
| rs896125470 | 20:3,654,234 | C/T | — | uncertain significance |
| rs996270662 | 20:3,654,298 | C/T | — | uncertain significance |
| rs982865958 | 20:3,654,422 | T/C | — | likely benign |
| rs542392977 | 20:3,654,431 | A/G | — | uncertain significance |
| rs41534847 | 20:3,654,482 | G/A | missense variant | — |
| rs1045093460 | 20:3,654,548 | G/A | — | uncertain significance |
| rs1346760760 | 20:3,654,728 | C/T | — | uncertain significance |
| rs756430869 | 20:3,654,924 | C/T | — | uncertain significance |
| rs1268267783 | 20:3,654,931 | C/T | — | uncertain significance |
| rs511898 | 20:3,655,085 | C/A | — | — |
| rs3918392 | 20:3,655,219 | T/C | missense variant | — |
| rs776750383 | 20:3,655,457 | C/T | — | likely benign |
| rs41467948 | 20:3,655,681 | T/C | — | benign |
| rs3918391 | 20:3,655,718 | A/G | missense variant | — |
| rs757766733 | 20:3,657,730 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.