CPNE4
copine 4
Summary
This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142424675 | 3:131,254,043 | G/A | — | uncertain significance |
| rs2472594494 | 3:131,254,103 | C/T | — | uncertain significance |
| rs561689852 | 3:131,254,148 | C/T | — | uncertain significance |
| rs1470885505 | 3:131,254,150 | C/G | — | uncertain significance |
| rs751118526 | 3:131,261,454 | C/G | — | uncertain significance |
| rs1185355534 | 3:131,261,532 | C/T | — | uncertain significance |
| rs2472638537 | 3:131,268,835 | C/T | — | uncertain significance |
| rs2472510768 | 3:131,388,572 | A/G | — | uncertain significance |
| rs574604056 | 3:131,415,408 | T/C | — | uncertain significance |
| rs201494241 | 3:131,415,435 | T/C | — | uncertain significance |
| rs751052330 | 3:131,442,325 | C/T | — | uncertain significance |
| rs34701357 | 3:131,442,345 | T/C | — | uncertain significance |
| rs775205253 | 3:131,442,375 | C/T | — | uncertain significance |
| rs201239059 | 3:131,442,381 | C/T | — | uncertain significance |
| rs1343320693 | 3:131,442,447 | C/T | — | uncertain significance |
| rs6785191 | 3:131,453,556 | T/C | intron variant | — |
| rs9844762 | 3:131,489,343 | G/C | intron variant | — |
| rs9289399 | 3:131,560,859 | T/G | intron variant | — |
| rs9848661 | 3:131,578,097 | G/A | — | — |
| rs7428670 | 3:131,579,810 | G/C | intron variant | — |
| rs9847672 | 3:131,618,541 | C/T | intron variant | — |
| rs9835574 | 3:131,623,019 | A/T | — | — |
| rs201950887 | 3:131,624,257 | C/T | — | uncertain significance |
| rs749162186 | 3:131,624,276 | C/T | — | uncertain significance |
| rs1445957105 | 3:131,624,283 | T/C | — | uncertain significance |
| rs112859723 | 3:131,625,376 | T/C | intron variant | — |
| rs1225004 | 3:131,626,991 | T/C | intron variant | — |
| rs1225060 | 3:131,637,173 | G/C | — | — |
| rs1225053 | 3:131,642,852 | T/C | intron variant | — |
| rs11708163 | 3:131,708,185 | G/T | upstream gene variant | — |
| rs1320900 | 3:131,713,566 | G/A | — | — |
| rs9857204 | 3:131,750,844 | G/A | intron variant | — |
| rs77465739 | 3:131,755,275 | A/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.