CPLX1
complexin 1
Summary
Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10794536 | 4:780,286 | G/C | — | benign |
| rs573107948 | 4:780,288 | G/T | — | likely benign |
| rs377210149 | 4:780,289 | C/T | — | likely benign |
| rs752540997 | 4:780,295 | C/G | — | uncertain significance |
| rs187153836 | 4:780,298 | G/C | — | likely benign |
| rs371709824 | 4:780,312 | G/T | missense variant | pathogenic |
| rs778428028 | 4:780,314 | G/T | — | uncertain significance |
| rs770257151 | 4:780,319 | G/A | — | likely benign |
| rs1441569519 | 4:780,327 | A/G | — | uncertain significance |
| rs1314197033 | 4:780,341 | T/C | — | uncertain significance |
| rs374943037 | 4:780,345 | G/A | — | likely benign |
| rs2475040480 | 4:780,352 | C/G | — | uncertain significance |
| rs200267276 | 4:780,354 | C/T | — | uncertain significance |
| rs202217824 | 4:780,355 | G/C | — | uncertain significance |
| rs986016483 | 4:780,361 | C/T | — | likely benign |
| rs775562518 | 4:780,368 | A/G | — | uncertain significance |
| rs1060499735 | 4:780,372 | C/G | missense variant | uncertain significance |
| rs1553851860 | 4:780,379 | G/T | — | pathogenic |
| rs562631127 | 4:780,383 | C/T | — | uncertain significance |
| rs574433619 | 4:780,386 | G/A | — | likely benign |
| rs757842359 | 4:780,420 | C/A | — | uncertain significance |
| rs930060514 | 4:780,423 | C/T | — | uncertain significance |
| rs1047064812 | 4:780,430 | G/T | — | likely benign |
| rs2475040758 | 4:780,432 | C/G | — | uncertain significance |
| rs747264616 | 4:780,443 | G/A | — | uncertain significance |
| rs1415942937 | 4:780,447 | G/C | — | uncertain significance |
| rs376234900 | 4:780,471 | T/C | — | uncertain significance |
| rs754684184 | 4:780,475 | C/T | — | likely benign |
| rs1378396481 | 4:780,476 | T/G | — | uncertain significance |
| rs757558496 | 4:780,484 | G/C | — | uncertain significance |
| rs1299915564 | 4:780,489 | G/A | — | uncertain significance |
| rs948890711 | 4:780,491 | G/T | — | uncertain significance |
| rs369493468 | 4:780,494 | G/T | — | likely benign |
| rs1395913366 | 4:786,203 | G/C | — | likely benign |
| rs1019971138 | 4:786,204 | G/A | — | likely benign |
| rs1443783881 | 4:786,205 | C/A | — | likely benign |
| rs1460007859 | 4:786,209 | C/T | — | likely benign |
| rs1560237614 | 4:786,211 | C/T | — | likely benign |
| rs561994728 | 4:786,212 | G/A | — | likely benign |
| rs1419710038 | 4:786,222 | T/C | — | uncertain significance |
| rs376378419 | 4:786,230 | G/T | — | likely benign |
| rs749055234 | 4:786,233 | G/T | — | likely benign |
| rs774426352 | 4:786,237 | T/G | — | uncertain significance |
| rs2475058738 | 4:786,240 | C/T | — | uncertain significance |
| rs371042405 | 4:786,244 | C/T | — | uncertain significance |
| rs775090510 | 4:786,245 | G/A | — | likely benign |
| rs541047416 | 4:786,251 | G/A | — | likely benign |
| rs376139437 | 4:786,258 | G/A | — | uncertain significance |
| rs779042489 | 4:786,296 | C/T | — | likely benign |
| rs373896763 | 4:786,331 | T/C | — | uncertain significance |
| rs370561245 | 4:786,342 | T/G | — | uncertain significance |
| rs757504656 | 4:786,349 | C/T | — | uncertain significance |
| rs2475059425 | 4:786,353 | C/T | — | likely benign |
| rs2475059454 | 4:786,356 | C/T | — | likely benign |
| rs745590886 | 4:786,364 | C/A | — | uncertain significance |
| rs1437315238 | 4:786,377 | C/T | — | likely benign |
| rs199531432 | 4:786,383 | G/A | — | likely benign |
| rs747832797 | 4:786,389 | G/T | — | likely benign |
| rs2306251 | 4:786,401 | T/C | — | benign |
| rs2475059708 | 4:786,405 | G/A | — | likely benign |
| rs2306250 | 4:786,508 | T/C | — | benign |
| rs201011878 | 4:818,271 | G/A | — | likely benign |
| rs146623665 | 4:819,323 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.