EIF4G1
eukaryotic translation initiation factor 4 gamma 1
Summary
The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition of the mRNA cap and the ATP-dependent unwinding of 5'-terminal secondary structure is catalyzed by factors in this complex. The subunit encoded by this gene is a large scaffolding protein that contains binding sites for other members of the EIF4F complex. A domain at its N-terminus can also interact with the poly(A)-binding protein, which may mediate the circularization of mRNA during translation. Alternative splicing results in multiple transcript variants, some of which are derived from alternative promoter usage. [provided by RefSeq, Aug 2010]
Known Variants133 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs377126456 | 3:184,031,468 | G/T | — | — |
| rs111493976 | 3:184,033,346 | T/A | — | benign |
| rs73187631 | 3:184,033,408 | A/T | — | benign |
| rs1722671223 | 3:184,033,626 | A/C | — | likely benign |
| rs986322729 | 3:184,033,923 | G/C | — | uncertain significance |
| rs1191508759 | 3:184,033,963 | C/A | — | uncertain significance |
| rs371421333 | 3:184,035,129 | C/T | — | likely benign |
| rs752230225 | 3:184,035,133 | C/T | — | uncertain significance |
| rs571849011 | 3:184,035,137 | C/T | — | uncertain significance |
| rs2474013590 | 3:184,035,215 | C/T | — | uncertain significance |
| rs2474013904 | 3:184,035,280 | G/C | — | uncertain significance |
| rs112394036 | 3:184,035,392 | T/A | — | benign |
| rs59108039 | 3:184,035,448 | G/A | — | benign |
| rs2474017363 | 3:184,035,527 | C/G | — | uncertain significance |
| rs7635741 | 3:184,037,255 | T/A | — | — |
| rs1194803734 | 3:184,037,527 | G/T | — | uncertain significance |
| rs13319149 | 3:184,037,533 | A/G | missense variant | benign |
| rs1371907848 | 3:184,037,547 | G/T | — | uncertain significance |
| rs981309467 | 3:184,037,588 | C/T | — | uncertain significance |
| rs28626875 | 3:184,037,716 | T/G | — | benign |
| rs745838960 | 3:184,038,760 | G/A | — | uncertain significance |
| rs9846954 | 3:184,038,874 | A/T | — | benign |
| rs4912537 | 3:184,038,969 | C/T | — | benign |
| rs748298511 | 3:184,039,105 | C/T | — | uncertain significance |
| rs1723878056 | 3:184,039,106 | C/T | — | uncertain significance |
| rs772606370 | 3:184,039,163 | C/T | — | uncertain significance |
| rs530344643 | 3:184,039,221 | C/G | — | likely benign |
| rs16858632 | 3:184,039,304 | A/G | — | benign |
| rs112887352 | 3:184,039,306 | C/T | — | likely benign |
| rs754009820 | 3:184,039,307 | G/A | — | uncertain significance |
| rs779145214 | 3:184,039,310 | T/C | — | uncertain significance |
| rs1209748965 | 3:184,039,328 | C/G | — | uncertain significance |
| rs112561176 | 3:184,039,332 | C/T | — | likely benign |
| rs2474057902 | 3:184,039,350 | A/C | — | uncertain significance |
| rs200405556 | 3:184,039,373 | C/A | — | uncertain significance |
| rs191357892 | 3:184,039,387 | G/C | — | uncertain significance |
| rs199812237 | 3:184,039,436 | C/T | — | likely benign |
| rs772020961 | 3:184,039,511 | T/C | — | uncertain significance |
| rs773236417 | 3:184,039,523 | C/T | — | uncertain significance |
| rs544371885 | 3:184,039,591 | G/A | — | uncertain significance |
| rs1367161098 | 3:184,039,651 | G/A | — | uncertain significance |
| rs2178403 | 3:184,039,666 | A/G | missense variant | benign |
| rs202143168 | 3:184,039,843 | A/T | — | likely benign |
| rs532807902 | 3:184,039,850 | C/A | — | uncertain significance |
| rs111290936 | 3:184,039,877 | C/T | missense variant | risk factor |
| rs16858641 | 3:184,039,937 | C/G | — | benign |
| rs1724066726 | 3:184,040,200 | A/G | — | uncertain significance |
| rs1292868145 | 3:184,040,221 | C/A | — | uncertain significance |
| rs1482201931 | 3:184,040,332 | G/A | — | uncertain significance |
| rs369883974 | 3:184,040,333 | C/T | — | likely benign |
| rs111924994 | 3:184,040,371 | G/C | — | likely benign |
| rs2474067302 | 3:184,040,380 | A/G | — | uncertain significance |
| rs1241165074 | 3:184,040,396 | C/T | — | uncertain significance |
| rs757486634 | 3:184,040,432 | C/T | — | uncertain significance |
| rs200160400 | 3:184,040,477 | A/C | — | uncertain significance |
| rs190378563 | 3:184,040,606 | C/T | — | benign |
| rs538505681 | 3:184,040,623 | C/G | — | uncertain significance |
| rs183327337 | 3:184,040,722 | A/T | — | uncertain significance |
| rs112019125 | 3:184,040,997 | G/T | missense variant | — |
| rs750466978 | 3:184,041,208 | C/A | — | uncertain significance |
| rs2474075946 | 3:184,041,244 | C/T | — | uncertain significance |
| rs111396765 | 3:184,041,256 | G/C | — | likely benign |
| rs1724277172 | 3:184,041,320 | G/T | — | uncertain significance |
| rs1032284086 | 3:184,041,326 | G/A | — | uncertain significance |
| rs80174971 | 3:184,041,499 | C/G | — | benign |
| rs754099344 | 3:184,041,761 | T/C | — | uncertain significance |
| rs16858643 | 3:184,041,971 | A/G | — | benign |
| rs371317759 | 3:184,042,005 | C/T | — | uncertain significance |
| rs1027249874 | 3:184,042,016 | A/G | — | uncertain significance |
| rs747850664 | 3:184,042,017 | C/T | — | uncertain significance |
| rs375514524 | 3:184,042,125 | A/C | — | uncertain significance |
| rs113839760 | 3:184,042,710 | G/A | — | likely benign |
| rs2474092334 | 3:184,042,871 | T/C | — | uncertain significance |
| rs771820943 | 3:184,043,268 | A/G | — | uncertain significance |
| rs112420733 | 3:184,043,282 | A/G | — | likely benign |
| rs11918961 | 3:184,043,285 | C/T | — | likely benign |
| rs2474096260 | 3:184,043,360 | C/G | — | uncertain significance |
| rs114615711 | 3:184,043,636 | C/T | — | benign |
| rs1436277907 | 3:184,043,650 | C/G | — | uncertain significance |
| rs2474099471 | 3:184,043,705 | C/T | — | uncertain significance |
| rs140705298 | 3:184,044,326 | C/T | — | likely benign |
| rs2293605 | 3:184,044,433 | T/C | — | benign |
| rs200715706 | 3:184,044,699 | C/T | — | uncertain significance |
| rs765058877 | 3:184,044,730 | G/T | — | likely benign |
| rs2474110081 | 3:184,044,735 | C/A | — | uncertain significance |
| rs756207906 | 3:184,044,758 | C/T | — | uncertain significance |
| rs192000000 | 3:184,045,000 | C/T | — | likely benign |
| rs771868603 | 3:184,045,032 | A/G | — | uncertain significance |
| rs751830609 | 3:184,045,062 | C/T | — | uncertain significance |
| rs113169049 | 3:184,045,065 | A/C | missense variant | — |
| rs753305744 | 3:184,045,072 | G/A | — | uncertain significance |
| rs200560380 | 3:184,045,092 | C/G | — | uncertain significance |
| rs200529085 | 3:184,045,117 | C/A | — | uncertain significance |
| rs1488558847 | 3:184,045,125 | C/T | — | uncertain significance |
| rs113388242 | 3:184,045,164 | C/T | missense variant | — |
| rs2474114149 | 3:184,045,177 | C/G | — | uncertain significance |
| rs112176450 | 3:184,045,189 | G/A | missense variant | risk factor |
| rs767757704 | 3:184,045,216 | G/A | — | uncertain significance |
| rs201711322 | 3:184,045,221 | C/T | — | uncertain significance |
| rs34086109 | 3:184,045,222 | G/A | — | benign |
Showing 100 of 133 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.