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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF4E3

Variant:p.L3R

EIF4E3

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

1 paper

chr3:71725360 A>C

NM_001134651.2

p.L3R

c.8T>G

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=6, hom=0)62 overlapping SVs

Surrounding Variants

1 paper

chr3:71725353 C>CN

NM_001134651.2

p.P5fs

c.13_14fs

exact variant not in gnomAD62 overlapping SVs

1 paper

chr3:71725353 CG>C

NM_001134651.2

p.P5delFs

c.14delG

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)62 overlapping SVs

1 paper

chr3:71725283 C>CG

NM_001134651.2

p.P28insFs

c.84dupC

Exome: 0.0% (AC=1, 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."