EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3
Summary
The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
Known Variants699 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs33957402 | 2:88,856,247 | G/C | — | benign |
| rs1415152930 | 2:88,856,542 | G/A | — | uncertain significance |
| rs180734302 | 2:88,856,619 | C/T | — | uncertain significance |
| rs886056412 | 2:88,856,795 | C/A | — | uncertain significance |
| rs148457589 | 2:88,856,846 | A/C | — | uncertain significance |
| rs551581209 | 2:88,856,894 | G/A | — | uncertain significance |
| rs974625421 | 2:88,856,898 | T/C | — | uncertain significance |
| rs1376568962 | 2:88,856,914 | T/C | — | uncertain significance |
| rs886056413 | 2:88,856,968 | C/G | — | uncertain significance |
| rs886056414 | 2:88,856,983 | A/C | — | uncertain significance |
| rs886056415 | 2:88,857,079 | T/A | — | uncertain significance |
| rs1474906844 | 2:88,857,150 | T/G | — | uncertain significance |
| rs771892864 | 2:88,857,155 | G/A | — | uncertain significance |
| rs2529085749 | 2:88,857,266 | C/T | — | likely benign |
| rs1573377983 | 2:88,857,268 | A/G | — | likely benign |
| rs145982613 | 2:88,857,275 | A/T | — | uncertain significance |
| rs957438194 | 2:88,857,281 | G/A | — | likely benign |
| rs747073375 | 2:88,857,288 | G/A | — | uncertain significance |
| rs572234262 | 2:88,857,311 | C/T | — | likely benign |
| rs770232594 | 2:88,857,312 | G/T | — | uncertain significance |
| rs10208681 | 2:88,857,314 | T/C | — | likely benign |
| rs762080456 | 2:88,857,318 | C/T | — | uncertain significance |
| rs2529086012 | 2:88,857,320 | C/T | — | likely benign |
| rs1387791586 | 2:88,857,323 | G/A | — | likely benign |
| rs530708954 | 2:88,857,326 | G/T | — | likely benign |
| rs765878566 | 2:88,857,327 | C/T | — | uncertain significance |
| rs765299033 | 2:88,857,328 | G/A | — | uncertain significance |
| rs1279814645 | 2:88,857,330 | G/A | — | uncertain significance |
| rs1673822401 | 2:88,857,338 | T/C | — | likely benign |
| rs2529086193 | 2:88,857,340 | T/G | — | likely benign |
| rs1270652878 | 2:88,857,358 | G/C | — | uncertain significance |
| rs1437063840 | 2:88,857,359 | A/G | — | likely benign |
| rs2529086363 | 2:88,857,371 | C/T | — | conflicting classifications of pathogenicity |
| rs1441763585 | 2:88,857,383 | A/T | — | uncertain significance |
| rs1384609979 | 2:88,857,389 | A/G | — | likely benign |
| rs2529086429 | 2:88,857,397 | T/G | — | uncertain significance |
| rs1332444284 | 2:88,857,411 | C/T | — | uncertain significance |
| rs866814797 | 2:88,857,412 | G/A | — | pathogenic |
| rs757254462 | 2:88,857,438 | T/A | — | uncertain significance |
| rs2529086605 | 2:88,857,445 | C/T | — | uncertain significance |
| rs141166027 | 2:88,857,448 | T/C | — | uncertain significance |
| rs746319005 | 2:88,857,451 | C/T | — | uncertain significance |
| rs56120877 | 2:88,857,452 | G/A | — | conflicting classifications of pathogenicity |
| rs2104377158 | 2:88,857,460 | A/G | — | likely benign |
| rs2529086692 | 2:88,857,465 | A/G | — | likely benign |
| rs201004765 | 2:88,857,467 | A/T | — | likely benign |
| rs76949751 | 2:88,858,366 | C/T | — | benign |
| rs2529089708 | 2:88,858,419 | T/A | — | likely benign |
| rs2529089742 | 2:88,858,427 | A/G | — | likely benign |
| rs762125383 | 2:88,858,434 | C/T | — | pathogenic |
| rs2529089802 | 2:88,858,444 | A/T | — | pathogenic |
| rs767428404 | 2:88,858,456 | A/G | — | likely benign |
| rs2529089871 | 2:88,858,461 | A/G | — | likely benign |
| rs2104379806 | 2:88,858,464 | G/T | — | uncertain significance |
| rs2529089910 | 2:88,858,470 | A/G | — | uncertain significance |
| rs750529763 | 2:88,858,471 | T/A | — | uncertain significance |
| rs756319874 | 2:88,858,474 | G/C | — | likely benign |
| rs2529089943 | 2:88,858,477 | A/G | — | likely benign |
| rs146129461 | 2:88,858,481 | C/A | — | uncertain significance |
| rs780698374 | 2:88,858,483 | T/C | — | likely benign |
| rs374423016 | 2:88,858,485 | C/T | — | uncertain significance |
| rs2529089991 | 2:88,858,487 | T/C | — | uncertain significance |
| rs1232692645 | 2:88,858,489 | A/G | — | likely benign |
| rs755369984 | 2:88,858,490 | G/C | — | uncertain significance |
| rs779355571 | 2:88,858,495 | G/A | — | likely benign |
| rs2529090046 | 2:88,858,496 | G/A | — | uncertain significance |
| rs1553405795 | 2:88,858,498 | C/G | — | likely pathogenic |
| rs747716914 | 2:88,858,501 | A/G | — | likely benign |
| rs2529090095 | 2:88,858,506 | A/G | — | likely benign |
| rs2529090126 | 2:88,858,511 | A/C | — | likely benign |
| rs771764830 | 2:88,858,512 | A/G | — | likely benign |
| rs2529090139 | 2:88,858,514 | T/G | — | likely benign |
| rs2104379981 | 2:88,858,516 | T/C | — | likely benign |
| rs1673866549 | 2:88,858,517 | C/G | — | likely benign |
| rs1800980 | 2:88,861,757 | T/G | — | benign |
| rs2529098486 | 2:88,861,790 | G/T | — | likely benign |
| rs560897978 | 2:88,861,791 | T/G | — | likely benign |
| rs2529098532 | 2:88,861,804 | T/A | — | uncertain significance |
| rs1242197456 | 2:88,861,823 | T/G | — | uncertain significance |
| rs2104387165 | 2:88,861,836 | G/A | — | uncertain significance |
| rs2104387173 | 2:88,861,840 | C/T | — | likely benign |
| rs1398272432 | 2:88,861,851 | A/C | — | uncertain significance |
| rs750736790 | 2:88,861,852 | T/C | — | likely benign |
| rs760802108 | 2:88,861,858 | C/T | — | likely benign |
| rs766612771 | 2:88,861,860 | G/A | — | likely benign |
| rs754345067 | 2:88,861,865 | A/C | — | pathogenic |
| rs2529098769 | 2:88,861,891 | A/G | — | uncertain significance |
| rs753123351 | 2:88,861,900 | T/G | — | likely benign |
| rs148953825 | 2:88,861,907 | A/G | — | uncertain significance |
| rs1673989749 | 2:88,861,926 | G/C | — | likely benign |
| rs2104403174 | 2:88,870,372 | T/G | — | likely benign |
| rs760719542 | 2:88,870,375 | A/G | — | likely benign |
| rs1324024714 | 2:88,870,377 | G/C | — | likely benign |
| rs2529116856 | 2:88,870,381 | G/A | — | likely benign |
| rs1674286829 | 2:88,870,386 | A/T | — | uncertain significance |
| rs869025179 | 2:88,870,391 | C/T | — | pathogenic |
| rs2104403206 | 2:88,870,399 | G/A | — | uncertain significance |
| rs2529116929 | 2:88,870,408 | T/C | — | likely pathogenic |
| rs2529116962 | 2:88,870,419 | C/T | — | likely benign |
| rs2529116977 | 2:88,870,426 | T/G | — | uncertain significance |
Showing 100 of 699 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.