CPNE5
copine 5
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. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined. [provided by RefSeq, Sep 2015]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141266501 | 6:36,710,067 | G/T | — | uncertain significance |
| rs150763631 | 6:36,710,069 | C/A | — | benign |
| rs1007644935 | 6:36,710,079 | G/A | — | uncertain significance |
| rs760503915 | 6:36,710,083 | G/A | — | uncertain significance |
| rs751822882 | 6:36,710,097 | G/A | — | uncertain significance |
| rs1309903277 | 6:36,710,101 | G/A | — | uncertain significance |
| rs747767268 | 6:36,710,130 | C/T | — | uncertain significance |
| rs3752480 | 6:36,710,269 | A/T | — | — |
| rs7763347 | 6:36,711,050 | A/G | intron variant | — |
| rs3213534 | 6:36,711,406 | G/A | intron variant | — |
| rs1763789147 | 6:36,711,485 | G/T | — | uncertain significance |
| rs1054285197 | 6:36,711,516 | C/T | — | uncertain significance |
| rs377584147 | 6:36,712,046 | G/T | — | uncertain significance |
| rs183437097 | 6:36,712,924 | A/C | — | benign |
| rs754534056 | 6:36,713,195 | T/C | — | uncertain significance |
| rs147728429 | 6:36,713,222 | C/T | — | uncertain significance |
| rs142529265 | 6:36,713,223 | G/A | — | uncertain significance |
| rs761457373 | 6:36,713,232 | G/A | — | uncertain significance |
| rs146907172 | 6:36,713,301 | C/T | — | benign |
| rs9470386 | 6:36,713,720 | G/C | — | — |
| rs9470387 | 6:36,713,858 | C/A | regulatory region variant | — |
| rs374175185 | 6:36,716,033 | T/C | — | uncertain significance |
| rs9986517 | 6:36,719,079 | C/T | regulatory region variant | — |
| rs59800485 | 6:36,720,242 | C/T | regulatory region variant | — |
| rs185925209 | 6:36,721,398 | G/A | regulatory region variant | — |
| rs10456444 | 6:36,722,842 | T/C | intron variant | — |
| rs569231401 | 6:36,722,935 | C/T | — | — |
| rs2532911510 | 6:36,724,048 | T/C | — | uncertain significance |
| rs200681095 | 6:36,730,722 | C/T | — | uncertain significance |
| rs3752482 | 6:36,733,070 | A/C | — | — |
| rs142514015 | 6:36,733,151 | G/T | — | uncertain significance |
| rs111569780 | 6:36,742,022 | G/T | intron variant | — |
| rs1383568670 | 6:36,742,742 | C/T | — | uncertain significance |
| rs35931885 | 6:36,742,767 | C/T | — | benign |
| rs1346313131 | 6:36,746,670 | T/C | — | uncertain significance |
| rs2481087661 | 6:36,746,710 | C/T | — | uncertain significance |
| rs4714010 | 6:36,747,406 | C/T | intron variant | — |
| rs77082945 | 6:36,759,828 | C/T | — | benign |
| rs535647957 | 6:36,760,352 | G/C | — | — |
| rs2481246265 | 6:36,762,385 | A/G | — | uncertain significance |
| rs758788529 | 6:36,765,961 | G/A | — | uncertain significance |
| rs2481284541 | 6:36,765,964 | T/A | — | uncertain significance |
| rs6941005 | 6:36,766,279 | G/A | — | benign |
| rs775662358 | 6:36,767,754 | G/A | — | uncertain significance |
| rs368726086 | 6:36,767,789 | A/C | — | uncertain significance |
| rs143066740 | 6:36,767,802 | C/T | — | uncertain significance |
| rs536387979 | 6:36,789,161 | G/C | — | — |
| rs236373 | 6:36,792,057 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.