CAVIN4
caveolae associated protein 4
Summary
This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1226591 | 9:103,340,309 | C/T | — | benign |
| rs1226590 | 9:103,340,369 | G/A | — | benign |
| rs369755712 | 9:103,340,416 | A/T | — | uncertain significance |
| rs777061909 | 9:103,340,436 | A/G | — | uncertain significance |
| rs1057524661 | 9:103,340,453 | G/A | — | uncertain significance |
| rs373690575 | 9:103,340,474 | C/T | — | uncertain significance |
| rs375508129 | 9:103,340,481 | C/T | — | uncertain significance |
| rs141589872 | 9:103,340,482 | G/A | — | likely benign |
| rs149928914 | 9:103,340,484 | G/C | — | uncertain significance |
| rs757061908 | 9:103,340,496 | A/T | — | uncertain significance |
| rs745781742 | 9:103,340,509 | C/T | — | likely benign |
| rs369545613 | 9:103,340,510 | G/A | — | uncertain significance |
| rs2490263933 | 9:103,340,553 | T/C | — | uncertain significance |
| rs768100531 | 9:103,340,563 | T/G | — | uncertain significance |
| rs560877170 | 9:103,340,574 | G/A | — | uncertain significance |
| rs753524431 | 9:103,340,586 | T/G | — | uncertain significance |
| rs947295697 | 9:103,340,593 | G/C | — | uncertain significance |
| rs372394474 | 9:103,340,602 | G/A | — | likely benign |
| rs374741826 | 9:103,340,627 | G/A | — | uncertain significance |
| rs796369761 | 9:103,340,643 | T/C | — | uncertain significance |
| rs73657328 | 9:103,340,658 | C/T | — | benign |
| rs1036002862 | 9:103,340,666 | A/G | — | uncertain significance |
| rs149165620 | 9:103,340,668 | T/G | — | conflicting classifications of pathogenicity |
| rs191289133 | 9:103,340,706 | G/A | — | uncertain significance |
| rs200276650 | 9:103,340,715 | G/A | — | uncertain significance |
| rs1554690779 | 9:103,340,721 | A/G | — | uncertain significance |
| rs762774797 | 9:103,340,769 | A/G | — | uncertain significance |
| rs2490264549 | 9:103,340,793 | A/G | — | uncertain significance |
| rs143268013 | 9:103,340,809 | C/G | — | uncertain significance |
| rs1587865630 | 9:103,340,815 | C/T | — | likely benign |
| rs137921742 | 9:103,340,817 | G/A | — | benign |
| rs147081785 | 9:103,340,819 | G/C | — | uncertain significance |
| rs116000902 | 9:103,340,839 | C/A | — | benign |
| rs376469478 | 9:103,340,842 | G/A | — | likely benign |
| rs113689675 | 9:103,340,861 | T/C | — | likely benign |
| rs1226589 | 9:103,340,875 | C/T | — | benign |
| rs1226588 | 9:103,341,014 | G/A | — | benign |
| rs13292418 | 9:103,341,078 | G/A | — | benign |
| rs1226587 | 9:103,341,081 | A/G | — | benign |
| rs1236813 | 9:103,342,632 | C/T | — | — |
| rs142357735 | 9:103,347,845 | G/A | — | likely benign |
| rs114611462 | 9:103,348,021 | T/A | — | likely benign |
| rs745743737 | 9:103,348,056 | C/T | — | uncertain significance |
| rs768645960 | 9:103,348,063 | C/T | — | uncertain significance |
| rs925977838 | 9:103,348,102 | A/G | — | uncertain significance |
| rs767889299 | 9:103,348,107 | C/T | — | uncertain significance |
| rs200636428 | 9:103,348,118 | T/C | — | likely benign |
| rs111884608 | 9:103,348,126 | A/G | — | benign |
| rs1304447896 | 9:103,348,156 | C/T | — | uncertain significance |
| rs145794010 | 9:103,348,157 | G/C | — | likely benign |
| rs28623148 | 9:103,348,208 | A/T | — | benign |
| rs1301660496 | 9:103,348,233 | A/G | — | uncertain significance |
| rs756842424 | 9:103,348,236 | A/G | — | uncertain significance |
| rs145600587 | 9:103,348,253 | A/G | — | likely benign |
| rs1839471910 | 9:103,348,261 | A/G | — | uncertain significance |
| rs200590850 | 9:103,348,270 | G/A | — | uncertain significance |
| rs144516649 | 9:103,348,321 | C/T | — | uncertain significance |
| rs148428476 | 9:103,348,322 | G/A | — | likely benign |
| rs141750274 | 9:103,348,324 | A/G | — | uncertain significance |
| rs114540433 | 9:103,348,330 | G/A | — | likely benign |
| rs146549670 | 9:103,348,352 | A/C | — | likely benign |
| rs200688664 | 9:103,348,364 | A/G | — | likely benign |
| rs1839474540 | 9:103,348,384 | G/A | — | likely benign |
| rs765728679 | 9:103,348,413 | A/C | — | uncertain significance |
| rs149770384 | 9:103,348,417 | C/G | — | uncertain significance |
| rs752495543 | 9:103,348,452 | C/T | — | uncertain significance |
| rs748500255 | 9:103,348,494 | G/A | — | uncertain significance |
| rs371552277 | 9:103,348,496 | G/A | — | likely benign |
| rs1231559548 | 9:103,348,498 | A/C | — | uncertain significance |
| rs876657509 | 9:103,348,506 | A/C | — | likely benign |
| rs375965738 | 9:103,348,533 | A/G | — | uncertain significance |
| rs148950537 | 9:103,348,551 | C/T | — | uncertain significance |
| rs751703046 | 9:103,348,558 | G/C | — | conflicting classifications of pathogenicity |
| rs778284038 | 9:103,348,577 | G/A | — | likely benign |
| rs147742000 | 9:103,348,609 | C/G | — | uncertain significance |
| rs148374985 | 9:103,348,618 | C/A | — | uncertain significance |
| rs141175381 | 9:103,348,623 | C/A | — | uncertain significance |
| rs752652787 | 9:103,348,625 | T/G | — | likely benign |
| rs2780956 | 9:103,348,634 | G/A | — | benign |
| rs565406194 | 9:103,348,643 | C/T | — | likely benign |
| rs190889727 | 9:103,348,750 | T/A | — | likely benign |
| rs115947662 | 9:103,348,779 | T/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.