CYFIP2
cytoplasmic FMR1 interacting protein 2
Summary
Predicted to enable small GTPase binding activity. Involved in several processes, including cell-cell adhesion; positive regulation of proteolysis; and regulation of postsynapse assembly. Located in perinuclear region of cytoplasm and synapse. Part of SCAR complex. Implicated in developmental and epileptic encephalopathy 65. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants778 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1030270 | 5:156,703,572 | C/T | intron variant | — |
| rs1241752177 | 5:156,712,379 | C/T | — | conflicting classifications of pathogenicity |
| rs371578292 | 5:156,712,380 | G/A | — | likely benign |
| rs776506102 | 5:156,712,383 | C/T | — | likely benign |
| rs1421838253 | 5:156,712,384 | G/A | — | likely benign |
| rs1408312141 | 5:156,712,390 | C/T | — | likely benign |
| rs761596947 | 5:156,712,401 | C/T | — | likely benign |
| rs376687042 | 5:156,712,410 | C/T | — | likely benign |
| rs750421212 | 5:156,712,413 | G/T | — | likely benign |
| rs755029730 | 5:156,712,419 | G/C | — | likely benign |
| rs1451560820 | 5:156,712,428 | G/C | — | uncertain significance |
| rs752822676 | 5:156,712,440 | C/G | — | likely benign |
| rs2532238365 | 5:156,712,441 | G/A | — | uncertain significance |
| rs367998009 | 5:156,712,452 | A/G | — | benign |
| rs1461152506 | 5:156,712,462 | C/T | — | uncertain significance |
| rs1186118351 | 5:156,712,477 | A/G | — | uncertain significance |
| rs371710290 | 5:156,712,480 | A/G | — | uncertain significance |
| rs369640959 | 5:156,712,482 | G/A | — | uncertain significance |
| rs921423992 | 5:156,712,492 | A/G | — | likely benign |
| rs2532238598 | 5:156,712,497 | A/T | — | likely benign |
| rs2113843538 | 5:156,712,500 | G/A | — | likely benign |
| rs2532238613 | 5:156,712,501 | G/A | — | likely benign |
| rs1343104428 | 5:156,712,503 | A/G | — | likely benign |
| rs1178517307 | 5:156,712,507 | A/G | — | benign |
| rs765066355 | 5:156,714,008 | C/A | — | likely benign |
| rs1428655997 | 5:156,714,025 | C/T | — | likely benign |
| rs2532246271 | 5:156,714,031 | A/G | — | uncertain significance |
| rs955806468 | 5:156,714,063 | A/G | — | likely benign |
| rs757670706 | 5:156,714,081 | A/G | — | likely benign |
| rs766961343 | 5:156,714,084 | G/A | — | likely benign |
| rs2532246560 | 5:156,714,091 | G/A | — | uncertain significance |
| rs1167904969 | 5:156,714,111 | C/T | — | likely benign |
| rs779373166 | 5:156,714,114 | C/T | — | benign |
| rs372488845 | 5:156,714,133 | C/G | — | likely benign |
| rs373637240 | 5:156,714,134 | C/A | — | likely benign |
| rs769539457 | 5:156,714,136 | C/T | — | likely benign |
| rs2288068 | 5:156,714,137 | G/A | — | benign |
| rs60869055 | 5:156,714,879 | A/G | intron variant | — |
| rs28660413 | 5:156,719,105 | T/G | intron variant | — |
| rs777482353 | 5:156,721,785 | A/G | — | likely benign |
| rs2532279864 | 5:156,721,801 | C/G | — | uncertain significance |
| rs1241385487 | 5:156,721,808 | A/C | — | uncertain significance |
| rs1201497625 | 5:156,721,813 | C/T | — | conflicting classifications of pathogenicity |
| rs373074465 | 5:156,721,817 | A/G | — | likely benign |
| rs376568198 | 5:156,721,824 | G/A | — | likely benign |
| rs759428926 | 5:156,721,828 | A/G | — | uncertain significance |
| rs768736910 | 5:156,721,833 | G/A | — | likely benign |
| rs1131692231 | 5:156,721,843 | C/T | — | pathogenic |
| rs1554108163 | 5:156,721,844 | G/C | — | pathogenic |
| rs2113869609 | 5:156,721,845 | C/T | — | likely benign |
| rs368509143 | 5:156,721,873 | G/C | — | uncertain significance |
| rs2532280469 | 5:156,721,878 | T/C | — | likely benign |
| rs112788174 | 5:156,721,884 | T/C | — | likely benign |
| rs1035397018 | 5:156,723,663 | C/T | — | likely benign |
| rs367746407 | 5:156,723,667 | A/G | — | likely benign |
| rs371983315 | 5:156,723,668 | T/C | — | likely benign |
| rs1758279941 | 5:156,723,672 | C/G | — | uncertain significance |
| rs75947678 | 5:156,723,675 | C/T | — | benign |
| rs2532288164 | 5:156,723,687 | T/C | — | uncertain significance |
| rs368093712 | 5:156,723,689 | C/T | — | conflicting classifications of pathogenicity |
| rs139530784 | 5:156,723,692 | C/T | — | benign |
| rs2532288205 | 5:156,723,695 | G/T | — | uncertain significance |
| rs887815085 | 5:156,723,705 | C/T | — | uncertain significance |
| rs2532288306 | 5:156,723,717 | T/C | — | likely pathogenic |
| rs2113874405 | 5:156,723,719 | T/C | — | likely benign |
| rs2532288400 | 5:156,723,737 | G/T | — | likely benign |
| rs2532288408 | 5:156,723,739 | T/C | — | likely pathogenic |
| rs750559695 | 5:156,723,744 | C/T | — | conflicting classifications of pathogenicity |
| rs763631624 | 5:156,723,745 | C/A | — | uncertain significance |
| rs566420283 | 5:156,723,746 | G/A | — | likely benign |
| rs756878301 | 5:156,723,755 | C/T | — | likely benign |
| rs2532288529 | 5:156,723,757 | A/G | — | uncertain significance |
| rs1758286956 | 5:156,723,762 | A/G | — | uncertain significance |
| rs1231011270 | 5:156,723,765 | A/C | — | uncertain significance |
| rs2532288583 | 5:156,723,771 | A/G | — | uncertain significance |
| rs1015047060 | 5:156,723,787 | G/T | — | uncertain significance |
| rs2532288637 | 5:156,723,789 | G/A | — | likely benign |
| rs1263352241 | 5:156,723,794 | G/A | — | likely benign |
| rs56669305 | 5:156,725,782 | G/C | — | — |
| rs557404728 | 5:156,727,708 | C/T | — | likely benign |
| rs574265762 | 5:156,727,713 | C/T | — | benign |
| rs753355688 | 5:156,727,718 | C/T | — | likely benign |
| rs148895189 | 5:156,727,734 | C/T | — | benign |
| rs1443507484 | 5:156,727,738 | C/T | — | uncertain significance |
| rs1357183737 | 5:156,727,739 | G/A | — | uncertain significance |
| rs2532305895 | 5:156,727,747 | A/T | — | likely benign |
| rs758104438 | 5:156,727,749 | C/T | — | likely benign |
| rs2532305954 | 5:156,727,752 | G/T | — | uncertain significance |
| rs780027307 | 5:156,727,753 | G/T | — | uncertain significance |
| rs2532306059 | 5:156,727,760 | G/A | — | uncertain significance |
| rs978149171 | 5:156,727,761 | G/A | — | likely benign |
| rs2532306082 | 5:156,727,763 | T/C | — | uncertain significance |
| rs1324941403 | 5:156,727,764 | G/T | — | likely benign |
| rs375762537 | 5:156,727,773 | C/T | — | likely benign |
| rs1758680375 | 5:156,727,777 | C/T | — | uncertain significance |
| rs2113888330 | 5:156,727,810 | C/T | — | likely benign |
| rs2532306283 | 5:156,727,811 | T/G | — | uncertain significance |
| rs1285471652 | 5:156,727,815 | C/T | — | likely benign |
| rs1448052172 | 5:156,727,824 | G/A | — | likely benign |
| rs749327820 | 5:156,727,828 | A/G | — | conflicting classifications of pathogenicity |
Showing 100 of 778 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.