CADPS2
calcium dependent secretion activator 2
Summary
This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
Known Variants91 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1348442 | 7:121,960,407 | T/G | — | benign |
| rs2197290 | 7:121,960,919 | A/G | intron variant | — |
| rs10248298 | 7:121,963,813 | C/A | upstream gene variant | — |
| rs768100417 | 7:121,965,557 | G/A | — | likely benign |
| rs1899690 | 7:121,966,150 | C/A | upstream gene variant | — |
| rs1443750 | 7:121,967,349 | C/G | upstream gene variant | — |
| rs754851028 | 7:121,985,692 | C/T | — | uncertain significance |
| rs763748395 | 7:121,985,711 | T/A | — | uncertain significance |
| rs552411319 | 7:122,000,847 | C/T | — | uncertain significance |
| rs369463911 | 7:122,000,998 | T/G | — | uncertain significance |
| rs369331950 | 7:122,001,022 | C/T | — | uncertain significance |
| rs1035785112 | 7:122,019,487 | G/A | — | uncertain significance |
| rs6466817 | 7:122,021,647 | C/G | — | — |
| rs2487780111 | 7:122,027,094 | C/G | — | uncertain significance |
| rs76528953 | 7:122,027,130 | C/T | — | likely benign |
| rs370021822 | 7:122,028,689 | C/G | — | uncertain significance |
| rs200360514 | 7:122,028,750 | A/T | — | uncertain significance |
| rs187092775 | 7:122,028,773 | C/T | — | benign |
| rs376397626 | 7:122,033,276 | C/T | — | likely benign |
| rs371127285 | 7:122,033,277 | G/A | — | uncertain significance |
| rs751307785 | 7:122,033,283 | G/T | — | uncertain significance |
| rs199643380 | 7:122,033,505 | G/C | — | likely benign |
| rs747298117 | 7:122,033,512 | C/A | — | uncertain significance |
| rs368742944 | 7:122,033,544 | C/T | — | uncertain significance |
| rs370785550 | 7:122,033,589 | C/T | — | uncertain significance |
| rs201294686 | 7:122,033,609 | T/C | — | uncertain significance |
| rs370698529 | 7:122,047,678 | C/A | — | uncertain significance |
| rs1266118590 | 7:122,047,731 | T/C | — | uncertain significance |
| rs896021623 | 7:122,056,120 | C/T | — | uncertain significance |
| rs1220418955 | 7:122,056,192 | T/C | — | uncertain significance |
| rs114565334 | 7:122,056,213 | T/C | — | benign |
| rs1585803994 | 7:122,056,222 | T/C | — | likely benign |
| rs1405985267 | 7:122,056,228 | A/G | — | likely benign |
| rs2489308579 | 7:122,078,413 | C/T | — | uncertain significance |
| rs2074589 | 7:122,078,414 | T/G | — | benign |
| rs2489308781 | 7:122,078,416 | T/C | — | uncertain significance |
| rs188401140 | 7:122,078,474 | C/G | — | benign |
| rs118113605 | 7:122,078,476 | C/G | — | likely benign |
| rs370800653 | 7:122,078,490 | A/G | — | uncertain significance |
| rs1489633050 | 7:122,078,502 | A/G | — | uncertain significance |
| rs1442405203 | 7:122,081,598 | C/G | — | uncertain significance |
| rs7785662 | 7:122,087,592 | G/A | intron variant | — |
| rs753166699 | 7:122,091,479 | T/C | — | uncertain significance |
| rs758689117 | 7:122,091,488 | C/T | — | uncertain significance |
| rs147217313 | 7:122,111,437 | G/A | — | benign |
| rs771052221 | 7:122,111,493 | C/G | — | uncertain significance |
| rs781239398 | 7:122,111,576 | T/A | — | likely benign |
| rs774524687 | 7:122,111,610 | A/G | — | uncertain significance |
| rs1241921631 | 7:122,111,611 | C/G | — | uncertain significance |
| rs2490919120 | 7:122,114,442 | G/T | — | uncertain significance |
| rs762602401 | 7:122,114,513 | C/A | — | uncertain significance |
| rs756978067 | 7:122,114,523 | T/G | — | uncertain significance |
| rs2490925972 | 7:122,114,536 | A/G | — | uncertain significance |
| rs772238734 | 7:122,114,562 | C/T | — | uncertain significance |
| rs776233111 | 7:122,130,209 | T/C | — | uncertain significance |
| rs61743033 | 7:122,130,281 | A/G | — | likely benign |
| rs2491555372 | 7:122,130,312 | A/T | — | uncertain significance |
| rs921090983 | 7:122,130,327 | C/A | — | uncertain significance |
| rs745324331 | 7:122,131,378 | C/T | — | uncertain significance |
| rs1235973780 | 7:122,131,451 | C/T | — | uncertain significance |
| rs1422700892 | 7:122,131,462 | T/C | — | uncertain significance |
| rs750521551 | 7:122,189,031 | G/C | — | — |
| rs996916949 | 7:122,194,643 | G/T | — | uncertain significance |
| rs775661950 | 7:122,194,694 | C/T | — | likely benign |
| rs531071519 | 7:122,194,747 | T/C | — | likely benign |
| rs2429582 | 7:122,202,593 | C/G | — | — |
| rs200386702 | 7:122,255,225 | A/G | — | likely benign |
| rs1189863815 | 7:122,255,350 | C/T | — | uncertain significance |
| rs2133994294 | 7:122,261,558 | C/A | — | uncertain significance |
| rs765072917 | 7:122,261,562 | G/A | — | likely benign |
| rs61997179 | 7:122,261,625 | T/C | — | benign |
| rs372372999 | 7:122,261,662 | G/C | — | uncertain significance |
| rs17144625 | 7:122,261,747 | C/T | — | benign |
| rs183005983 | 7:122,261,764 | T/C | — | likely benign |
| rs568129068 | 7:122,269,373 | C/T | — | uncertain significance |
| rs533221940 | 7:122,285,309 | G/A | — | — |
| rs1224672033 | 7:122,303,312 | C/G | — | uncertain significance |
| rs2251761 | 7:122,303,321 | C/T | — | benign |
| rs2536854085 | 7:122,303,326 | T/G | — | uncertain significance |
| rs928463441 | 7:122,303,334 | C/T | — | uncertain significance |
| rs113324996 | 7:122,303,450 | G/A | — | benign |
| rs1197799346 | 7:122,303,471 | T/C | — | likely benign |
| rs747655125 | 7:122,303,590 | C/T | — | uncertain significance |
| rs200522504 | 7:122,303,615 | T/C | — | likely benign |
| rs6466832 | 7:122,341,149 | T/A | — | — |
| rs372630760 | 7:122,377,029 | C/T | — | uncertain significance |
| rs375896798 | 7:122,377,035 | A/T | — | uncertain significance |
| rs1300723395 | 7:122,377,055 | A/G | — | uncertain significance |
| rs747191207 | 7:122,526,156 | T/C | — | uncertain significance |
| rs888616902 | 7:122,526,283 | T/C | — | likely benign |
| rs953031883 | 7:122,526,300 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.