CPNE3
copine 3
Summary
Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7015263 | 8:87,526,192 | C/A | regulatory region variant | — |
| rs11992656 | 8:87,534,869 | T/A | regulatory region variant | — |
| rs750381139 | 8:87,540,823 | A/G | — | uncertain significance |
| rs746249083 | 8:87,540,875 | T/A | — | uncertain significance |
| rs369417999 | 8:87,541,209 | C/A | — | uncertain significance |
| rs771190545 | 8:87,541,299 | A/G | — | uncertain significance |
| rs775449265 | 8:87,541,333 | G/A | — | uncertain significance |
| rs745622693 | 8:87,543,408 | G/A | — | uncertain significance |
| rs187667125 | 8:87,544,778 | T/G | — | uncertain significance |
| rs761153864 | 8:87,544,795 | A/G | — | uncertain significance |
| rs1285532427 | 8:87,544,806 | A/G | — | uncertain significance |
| rs62510845 | 8:87,547,051 | C/A | intron variant | — |
| rs781107778 | 8:87,549,866 | C/T | — | uncertain significance |
| rs534099618 | 8:87,552,507 | C/T | — | uncertain significance |
| rs1433701226 | 8:87,557,002 | A/T | — | uncertain significance |
| rs10102229 | 8:87,557,789 | C/T | intron variant | — |
| rs747051258 | 8:87,558,872 | A/G | — | uncertain significance |
| rs201767063 | 8:87,560,554 | A/G | — | uncertain significance |
| rs146607930 | 8:87,560,599 | A/G | — | uncertain significance |
| rs143958572 | 8:87,560,604 | G/A | — | uncertain significance |
| rs747381462 | 8:87,563,311 | A/G | — | likely benign |
| rs777114948 | 8:87,563,325 | G/T | — | uncertain significance |
| rs1821167941 | 8:87,563,418 | A/G | — | uncertain significance |
| rs781474044 | 8:87,563,429 | A/G | — | uncertain significance |
| rs150407168 | 8:87,563,442 | C/A | — | uncertain significance |
| rs11782610 | 8:87,566,158 | A/G | downstream gene variant | — |
| rs141184344 | 8:87,567,175 | G/A | — | uncertain significance |
| rs759139211 | 8:87,567,180 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.