EIF4ENIF1
eukaryotic translation initiation factor 4E nuclear import factor 1
Summary
The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs568526094 | 22:31,835,875 | G/A | — | likely benign |
| rs752377730 | 22:31,835,993 | C/T | — | uncertain significance |
| rs981207650 | 22:31,836,009 | A/C | — | uncertain significance |
| rs2517564925 | 22:31,836,029 | G/A | — | uncertain significance |
| rs574664088 | 22:31,836,738 | C/T | — | uncertain significance |
| rs2517570752 | 22:31,836,758 | G/A | — | uncertain significance |
| rs139184009 | 22:31,836,842 | G/A | — | uncertain significance |
| rs754852735 | 22:31,837,786 | T/G | — | uncertain significance |
| rs780468231 | 22:31,837,894 | C/T | — | uncertain significance |
| rs749735053 | 22:31,837,895 | G/A | — | uncertain significance |
| rs2517581198 | 22:31,838,005 | G/A | — | uncertain significance |
| rs765037809 | 22:31,838,044 | T/C | — | uncertain significance |
| rs751498679 | 22:31,838,069 | C/T | — | uncertain significance |
| rs779070169 | 22:31,838,108 | T/A | — | uncertain significance |
| rs768361220 | 22:31,838,960 | T/C | — | uncertain significance |
| rs1004064485 | 22:31,838,995 | T/A | — | uncertain significance |
| rs762332670 | 22:31,840,635 | C/T | — | uncertain significance |
| rs2517599610 | 22:31,840,648 | G/T | — | uncertain significance |
| rs768365525 | 22:31,843,469 | T/A | — | uncertain significance |
| rs368438875 | 22:31,843,523 | G/C | — | uncertain significance |
| rs562372037 | 22:31,843,547 | C/T | — | uncertain significance |
| rs544951650 | 22:31,844,184 | A/C | — | uncertain significance |
| rs969956262 | 22:31,844,213 | T/A | — | uncertain significance |
| rs772161382 | 22:31,845,357 | C/T | — | uncertain significance |
| rs766177443 | 22:31,845,381 | C/A | — | uncertain significance |
| rs752653552 | 22:31,845,412 | A/C | — | uncertain significance |
| rs376624322 | 22:31,845,442 | T/G | — | benign |
| rs369457358 | 22:31,845,454 | T/C | — | uncertain significance |
| rs201522943 | 22:31,845,460 | T/C | — | uncertain significance |
| rs748652326 | 22:31,845,468 | C/G | — | uncertain significance |
| rs1356657885 | 22:31,845,477 | T/C | — | uncertain significance |
| rs150479966 | 22:31,847,323 | G/C | upstream gene variant | — |
| rs771724646 | 22:31,850,131 | C/T | — | uncertain significance |
| rs2517655391 | 22:31,850,143 | T/A | — | uncertain significance |
| rs760101378 | 22:31,850,171 | T/C | — | uncertain significance |
| rs756133026 | 22:31,850,227 | T/C | — | uncertain significance |
| rs73396301 | 22:31,850,238 | G/A | — | benign |
| rs1475066421 | 22:31,851,143 | T/C | — | uncertain significance |
| rs1218359377 | 22:31,851,865 | G/A | — | uncertain significance |
| rs1348044932 | 22:31,851,964 | C/A | — | uncertain significance |
| rs9609286 | 22:31,852,427 | T/C | intron variant | — |
| rs1208491249 | 22:31,854,541 | C/T | — | uncertain significance |
| rs2517680486 | 22:31,854,598 | C/G | — | uncertain significance |
| rs749374120 | 22:31,854,607 | C/T | — | uncertain significance |
| rs2517680847 | 22:31,854,631 | C/T | — | uncertain significance |
| rs368717204 | 22:31,858,938 | C/T | — | uncertain significance |
| rs567771958 | 22:31,858,939 | G/C | — | uncertain significance |
| rs199793310 | 22:31,858,941 | C/T | — | uncertain significance |
| rs763886293 | 22:31,858,942 | G/C | — | uncertain significance |
| rs761491080 | 22:31,859,097 | C/T | — | uncertain significance |
| rs2517701920 | 22:31,859,112 | A/G | — | uncertain significance |
| rs755958296 | 22:31,859,698 | C/T | — | uncertain significance |
| rs576120560 | 22:31,859,702 | C/T | — | uncertain significance |
| rs527699848 | 22:31,859,849 | G/T | — | uncertain significance |
| rs200074650 | 22:31,859,923 | A/G | — | uncertain significance |
| rs62236223 | 22:31,863,554 | T/C | downstream gene variant | — |
| rs989411067 | 22:31,864,187 | C/T | — | uncertain significance |
| rs2517735348 | 22:31,864,203 | C/G | — | uncertain significance |
| rs749325862 | 22:31,867,879 | G/T | — | uncertain significance |
| rs11544091 | 22:31,867,903 | C/T | — | likely benign |
| rs7289941 | 22:31,884,405 | T/A | — | — |
| rs2146124840 | 22:31,884,683 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.