EIF4A2
eukaryotic translation initiation factor 4A2
Summary
Enables ATP hydrolysis activity. Involved in negative regulation of RNA-dependent RNA polymerase activity. Located in perinuclear region of cytoplasm. Implicated in neurodevelopmental disorder with hypotonia and speech delay. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs374423216 | 3:186,501,375 | C/A | coding sequence variant | — |
| rs377170945 | 3:186,501,392 | T/C | — | likely benign |
| rs571299759 | 3:186,501,400 | A/T | — | uncertain significance |
| rs764605841 | 3:186,501,404 | C/G | — | likely pathogenic |
| rs201090177 | 3:186,501,423 | T/C | — | likely benign |
| rs266719 | 3:186,501,648 | T/C | coding sequence variant | — |
| rs2473968157 | 3:186,503,691 | C/T | — | uncertain significance |
| rs1721678979 | 3:186,503,780 | C/T | — | uncertain significance |
| rs142804104 | 3:186,503,787 | T/C | — | uncertain significance |
| rs2473968343 | 3:186,503,804 | G/T | — | likely pathogenic |
| rs112754953 | 3:186,503,841 | G/T | — | likely pathogenic |
| rs80057919 | 3:186,503,946 | C/T | — | benign |
| rs2108458548 | 3:186,504,304 | C/A | — | likely pathogenic |
| rs2473970931 | 3:186,504,309 | A/G | — | pathogenic |
| rs2473970934 | 3:186,504,310 | C/T | — | pathogenic |
| rs2108458585 | 3:186,504,354 | G/T | — | uncertain significance |
| rs2108458617 | 3:186,504,391 | C/T | — | pathogenic |
| rs11538612 | 3:186,504,407 | A/G | — | benign |
| rs181852973 | 3:186,504,439 | C/T | — | likely benign |
| rs75837460 | 3:186,504,913 | C/T | — | benign |
| rs2473975473 | 3:186,505,375 | T/C | — | uncertain significance |
| rs2473976506 | 3:186,505,596 | G/A | — | uncertain significance |
| rs2473976527 | 3:186,505,624 | G/C | — | pathogenic |
| rs2473976567 | 3:186,505,652 | C/T | — | uncertain significance |
| rs2108464046 | 3:186,506,925 | G/A | — | pathogenic |
| rs1213509261 | 3:186,506,930 | C/T | — | uncertain significance |
| rs1721981951 | 3:186,506,990 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.