rs1253747485

This variant is located in the EIF4E2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About EIF4E2

Enables RNA 7-methylguanosine cap binding activity; mRNA cap binding activity; and ubiquitin protein ligase binding activity. Involved in negative regulation of translational initiation; negative regulation of type I interferon-mediated signaling pathway; and rescue of stalled ribosome. Acts upstream of with a positive effect on miRNA-mediated gene silencing by inhibition of translation. Acts upstream of or within negative regulation of translation. Located in P-body. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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