ERC2
ELKS/RAB6-interacting/CAST family member 2
Summary
This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs55876294 | 3:55,555,769 | G/T | regulatory region variant | — |
| rs1875110 | 3:55,563,344 | T/G | — | — |
| rs1795648 | 3:55,571,760 | G/C | — | — |
| rs368360203 | 3:55,697,425 | T/C | — | — |
| rs184802404 | 3:55,733,413 | G/A | — | uncertain significance |
| rs1495369 | 3:55,808,465 | C/T | intron variant | — |
| rs149403252 | 3:55,917,745 | G/T | intron variant | — |
| rs200582069 | 3:55,922,456 | A/C | — | uncertain significance |
| rs201871287 | 3:55,922,576 | A/G | — | uncertain significance |
| rs6774470 | 3:55,935,470 | A/C | — | — |
| rs76148270 | 3:55,941,014 | T/C | regulatory region variant | — |
| rs12491186 | 3:55,974,204 | C/T | intron variant | — |
| rs376662259 | 3:55,984,460 | T/G | — | uncertain significance |
| rs12485264 | 3:56,014,781 | A/G | intron variant | — |
| rs2471285768 | 3:56,026,095 | C/T | — | uncertain significance |
| rs751851932 | 3:56,026,188 | C/T | — | uncertain significance |
| rs780698592 | 3:56,026,215 | C/T | — | uncertain significance |
| rs139250346 | 3:56,026,218 | G/A | — | uncertain significance |
| rs2471287190 | 3:56,026,251 | T/C | — | uncertain significance |
| rs2471369552 | 3:56,041,242 | C/A | — | uncertain significance |
| rs200893263 | 3:56,044,536 | C/G | — | uncertain significance |
| rs2471390776 | 3:56,044,548 | A/T | — | uncertain significance |
| rs267599909 | 3:56,044,565 | C/T | — | uncertain significance |
| rs371352737 | 3:56,044,571 | C/T | — | uncertain significance |
| rs780910111 | 3:56,044,601 | C/T | — | uncertain significance |
| rs755030390 | 3:56,052,980 | G/A | — | uncertain significance |
| rs12496267 | 3:56,055,638 | G/T | intron variant | — |
| rs1519038 | 3:56,066,102 | C/T | intron variant | — |
| rs184140328 | 3:56,084,088 | C/G | intron variant | — |
| rs201383881 | 3:56,093,132 | T/G | — | — |
| rs34742957 | 3:56,102,809 | G/C | upstream gene variant | — |
| rs78731704 | 3:56,111,740 | T/G | intron variant | — |
| rs2077196000 | 3:56,114,898 | T/C | — | uncertain significance |
| rs2472127597 | 3:56,173,684 | T/G | — | uncertain significance |
| rs2472127627 | 3:56,173,688 | T/C | — | uncertain significance |
| rs17235410 | 3:56,180,887 | C/T | intron variant | — |
| rs186918021 | 3:56,183,065 | G/A | — | likely benign |
| rs1352014 | 3:56,192,884 | A/T | intron variant | — |
| rs2316482 | 3:56,200,301 | A/G | intron variant | — |
| rs7641482 | 3:56,235,404 | T/G | intron variant | — |
| rs4425224 | 3:56,249,398 | C/G | — | — |
| rs9840521 | 3:56,250,062 | A/G | intron variant | — |
| rs4974126 | 3:56,270,301 | G/A | intron variant | — |
| rs11922083 | 3:56,279,032 | G/C | intron variant | — |
| rs9842284 | 3:56,293,675 | T/A | — | — |
| rs558269048 | 3:56,301,641 | T/C | — | — |
| rs2471541209 | 3:56,330,055 | G/T | — | uncertain significance |
| rs775124362 | 3:56,330,126 | A/C | — | uncertain significance |
| rs373270503 | 3:56,330,135 | G/A | — | uncertain significance |
| rs2471543235 | 3:56,330,267 | T/A | — | uncertain significance |
| rs201572436 | 3:56,330,369 | G/A | — | uncertain significance |
| rs11716723 | 3:56,341,859 | C/A | — | — |
| rs192493950 | 3:56,449,222 | C/G | intron variant | — |
| rs1467445236 | 3:56,468,629 | G/A | — | uncertain significance |
| rs1410926083 | 3:56,468,642 | G/T | — | uncertain significance |
| rs749951626 | 3:56,468,723 | C/A | — | uncertain significance |
| rs201496750 | 3:56,468,740 | C/A | — | uncertain significance |
| rs774155641 | 3:56,468,773 | C/T | — | uncertain significance |
| rs200184138 | 3:56,468,977 | C/T | — | uncertain significance |
| rs6801539 | 3:56,477,803 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.