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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF4EBP3

EIF4EBP3

14 papers

RefSeq Summary

This gene encodes a member of the EIF4EBP family, which consists of proteins that bind to eukaryotic translation initiation factor 4E and regulate its assembly into EIF4F, the multi-subunit translatio...

Pfam Domains

eIF_4EBPaa 6–100UCSCEukaryotic translation initiation factor 4E binding protein (EIF4EBP)

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 4E binding protein 3

HGNC Alias Symbol

4E-BP3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr5:140547760 C>T

NM_003732.3

p.P8L

c.23C>T

eIF_4EBP

exact variant not in gnomAD48 overlapping SVs

1 paper

chr5:140547765 C>CN

NM_003732.3

p.P10fs

c.28_29fs

eIF_4EBP

exact variant not in gnomAD48 overlapping SVs

1 paper

chr5:140547767 C>CG

NM_003732.3

p.G11insFs

c.31dupG

eIF_4EBP

exact variant not in gnomAD48 overlapping SVs

1 paper

chr5:140547771 G>A

NM_003732.3

p.G12S

c.34G>A

eIF_4EBP

Exome: 0.0% (AC=1, hom=0)Genome: n/a48 overlapping SVs

1 paper

chr5:140547804 A>G

NM_003732.3

p.T23A

c.67A>G

eIF_4EBP

exact variant not in gnomAD48 overlapping SVs

1 paper

chr5:140547816 ACG>N

NM_003732.3

p.T27fs

c.79_80fs

eIF_4EBP

exact variant not in gnomAD48 overlapping SVs

1 paper

chr5:140548919 C>G

NM_003732.3

p.I39M

c.117C>G

eIF_4EBP

exact variant not in gnomAD48 overlapping SVs

1 paper

chr5:140548946 C>A

NM_003732.3

p.C48*

c.144C>A

eIF_4EBP

exact variant not in gnomAD48 overlapping SVs

1 paper

chr5:140548963 C>T

NM_003732.3

p.A54V

c.161C>T

eIF_4EBP

exact variant not in gnomAD48 overlapping SVs

1 paper

chr5:140549020 C>T

NM_003732.3

p.A73V

c.218C>T

eIF_4EBP

Exome: 0.0% (AC=7, hom=0)Genome: n/a48 overlapping SVs

1 paper

chr5:140549251 A>G

NM_003732.3

p.M98V

c.292A>G

eIF_4EBP

Exome: 0.0% (AC=1, hom=0)Genome: n/a48 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."