ADAM23
ADAM metallopeptidase domain 23
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. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2468913515 | 2:207,308,603 | G/C | — | uncertain significance |
| rs1278483611 | 2:207,308,657 | T/C | — | uncertain significance |
| rs756280188 | 2:207,308,700 | C/T | — | uncertain significance |
| rs760557033 | 2:207,308,723 | C/T | — | uncertain significance |
| rs1256614044 | 2:207,308,771 | C/T | — | uncertain significance |
| rs1400570605 | 2:207,308,802 | G/A | — | uncertain significance |
| rs1338485796 | 2:207,310,037 | A/T | — | uncertain significance |
| rs757356073 | 2:207,310,064 | T/C | — | uncertain significance |
| rs746564560 | 2:207,310,101 | G/T | — | uncertain significance |
| rs61753552 | 2:207,310,135 | A/G | — | likely benign |
| rs146724325 | 2:207,310,170 | A/G | — | likely benign |
| rs149165152 | 2:207,310,177 | A/C | — | uncertain significance |
| rs112012170 | 2:207,310,189 | T/G | — | likely benign |
| rs2468917073 | 2:207,310,210 | C/A | — | uncertain significance |
| rs1207146 | 2:207,313,203 | G/C | intron variant | — |
| rs141683172 | 2:207,345,997 | C/T | — | likely benign |
| rs55811202 | 2:207,351,340 | G/A | intron variant | — |
| rs143219430 | 2:207,392,258 | A/C | regulatory region variant | — |
| rs2469045771 | 2:207,395,638 | T/G | — | uncertain significance |
| rs1697301578 | 2:207,406,798 | A/G | — | uncertain significance |
| rs142194045 | 2:207,406,828 | A/G | — | likely benign |
| rs141617022 | 2:207,408,024 | A/C | — | uncertain significance |
| rs192761547 | 2:207,409,570 | C/T | intron variant | — |
| rs1015476729 | 2:207,412,175 | T/C | — | uncertain significance |
| rs375863378 | 2:207,414,815 | G/A | — | likely benign |
| rs189411872 | 2:207,422,138 | A/G | intron variant | — |
| rs906990188 | 2:207,422,172 | C/T | — | uncertain significance |
| rs747032665 | 2:207,422,185 | A/G | — | uncertain significance |
| rs770992807 | 2:207,424,681 | T/C | — | likely benign |
| rs1162818375 | 2:207,424,705 | G/C | — | uncertain significance |
| rs758258908 | 2:207,424,806 | G/A | — | uncertain significance |
| rs777567314 | 2:207,424,811 | A/G | — | uncertain significance |
| rs888911491 | 2:207,424,818 | A/T | — | uncertain significance |
| rs775100778 | 2:207,425,911 | G/A | — | uncertain significance |
| rs759826610 | 2:207,431,947 | G/C | — | likely benign |
| rs763617329 | 2:207,435,476 | A/T | — | uncertain significance |
| rs759893466 | 2:207,436,500 | A/G | — | uncertain significance |
| rs2469109989 | 2:207,437,852 | G/A | — | uncertain significance |
| rs933264881 | 2:207,437,854 | T/C | — | uncertain significance |
| rs756677206 | 2:207,452,058 | A/C | — | uncertain significance |
| rs142870912 | 2:207,452,075 | C/T | — | likely benign |
| rs755389842 | 2:207,452,818 | C/T | — | uncertain significance |
| rs779393835 | 2:207,452,850 | C/A | — | uncertain significance |
| rs111982848 | 2:207,452,887 | C/T | — | benign |
| rs552972249 | 2:207,454,154 | T/C | — | uncertain significance |
| rs771243494 | 2:207,454,217 | G/A | — | uncertain significance |
| rs867924923 | 2:207,457,379 | C/T | — | uncertain significance |
| rs77257129 | 2:207,459,461 | T/C | — | benign |
| rs372500763 | 2:207,459,550 | G/A | — | uncertain significance |
| rs2469146512 | 2:207,459,609 | A/G | — | uncertain significance |
| rs766868253 | 2:207,459,625 | A/G | — | uncertain significance |
| rs113518350 | 2:207,460,865 | C/G | — | likely benign |
| rs150120822 | 2:207,460,866 | C/A | — | uncertain significance |
| rs2469170663 | 2:207,474,718 | G/C | — | uncertain significance |
| rs775805041 | 2:207,482,311 | A/G | — | uncertain significance |
| rs192421377 | 2:207,485,727 | C/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.