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EIF4EBP1

Synonyms
4E-BP1, 4EBP1, BP-1, PHAS-I
External resources
Summary
This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
598
Likely benign
101
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on EIF4EBP1 gene.

Phenotype class
Patients in 3billion (%)

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