CPNE8
copine 8
Summary
Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2630778 | 12:39,050,589 | G/A | intron variant | — |
| rs1404165216 | 12:39,064,600 | C/T | — | uncertain significance |
| rs1159130662 | 12:39,087,607 | A/T | — | uncertain significance |
| rs826838 | 12:39,106,731 | C/T | intron variant | — |
| rs7312879 | 12:39,150,752 | G/A | intron variant | — |
| rs747112366 | 12:39,155,980 | G/A | — | uncertain significance |
| rs1231538454 | 12:39,155,989 | A/T | — | uncertain significance |
| rs769858371 | 12:39,156,011 | T/C | — | uncertain significance |
| rs150463102 | 12:39,189,800 | C/T | intron variant | — |
| rs758287157 | 12:39,242,389 | C/T | — | uncertain significance |
| rs17464772 | 12:39,247,777 | G/T | — | — |
| rs11169838 | 12:39,253,108 | C/T | intron variant | — |
| rs369822693 | 12:39,266,831 | C/G | — | uncertain significance |
| rs1944555281 | 12:39,299,258 | C/T | — | uncertain significance |
| rs201747748 | 12:39,299,326 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.