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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF4E3

Variant:p.P62H

EIF4E3

3p13 (UCSC)OMIM GTEx

14 papers

RefSeq Summary

EIF4E3 belongs to the EIF4E family of translational initiation factors that interact with the 5-prime cap structure of mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed 15153109]).[sup...

Pfam Domains

IF4Eaa 48–223UCSCEukaryotic initiation factor 4E

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 4E family member 3

HGNC Alias Symbol

MGC39820

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:71710476 G>T

NM_001134651.2

p.P62H

c.185C>A

exact variant not in gnomAD62 overlapping SVs

Surrounding Variants

chr3:71710471 C>T

NM_001134651.2

p.A64T

c.190G>A

Exome: 0.0% (AC=7, hom=0)Genome: n/a62 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."