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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF4EBP2

EIF4EBP2

26 papers

RefSeq Summary

This gene encodes a member of the eukaryotic translation initiation factor 4E binding protein family. The gene products of this family bind eIF4E and inhibit translation initiation. However, insulin a...

Pfam Domains

eIF_4EBPaa 3–120UCSCEukaryotic translation initiation factor 4E binding protein (EIF4EBP)

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 4E binding protein 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 17 variants

2 papers

chr10:70419961 T>G

NM_004096.5

p.S65A

c.193T>G

eIF_4EBP

exact variant not in gnomAD31 overlapping SVs

2 papers

chr10:70420063 A>G

NM_004096.5

p.N99D

c.295A>G

eIF_4EBP

exact variant not in gnomAD31 overlapping SVs

2 papers

chr10:70420072 A>G

NM_004096.5

p.N102D

c.304A>G

eIF_4EBP

Exome: 0.0% (AC=1, hom=0)Genome: n/a31 overlapping SVs

1 paper

chr10:70404403 T>C

NM_004096.5

p.M1T

c.2T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a31 overlapping SVs

1 paper

chr10:70404418 G>A

NM_004096.5

p.G6D

c.17G>A

eIF_4EBP

Exome: 0.2% (AC=2892, hom=3)Genome: 0.1% (AC=228, hom=0)31 overlapping SVs

1 paper

chr10:70404458 C>G

NM_004096.5

p.T19T

c.57C>G

eIF_4EBP

Exome: 0.4% (AC=6136, hom=151)Genome: 0.4% (AC=677, hom=16)31 overlapping SVs

1 paper

chr10:70404537 A>G

NM_004096.5

p.T46A

c.136A>G

eIF_4EBP

exact variant not in gnomAD31 overlapping SVs

1 paper

chr10:70419919 C>T

NM_004096.5

p.R51*

c.151C>T

eIF_4EBP

Exome: 0.0% (AC=18, hom=0)Genome: n/a31 overlapping SVs

1 paper

chr10:70419964 C>T

NM_004096.5

p.P66S

c.196C>T

eIF_4EBP

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)31 overlapping SVs

1 paper

chr10:70419976 A>G

NM_004096.5

p.T70A

c.208A>G

eIF_4EBP

exact variant not in gnomAD31 overlapping SVs

1 paper

chr10:70419990 C>T

NM_004096.5

p.H74H

c.222C>T

eIF_4EBP

Exome: 50.0% (AC=730031, hom=184154)Genome: 48.0% (AC=72985, hom=17933)31 overlapping SVs

1 paper

chr10:70419995 C>G

NM_004096.5

p.P76R

c.227C>G

eIF_4EBP

exact variant not in gnomAD31 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."