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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF4EBP1

EIF4EBP1

84 papers

RefSeq 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 th...

Pfam Domains

eIF_4EBPaa 2–118UCSCEukaryotic translation initiation factor 4E binding protein (EIF4EBP)

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 4E binding protein 1

HGNC Alias Symbols

PHAS-I; 4E-BP1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 44 variants

4 papers

chr8:38030709 A>G

NM_004095.4

p.T46A

c.136A>G

eIF_4EBP

Exome: 0.0% (AC=0, hom=0)Genome: n/a19 overlapping SVs

4 papers

chr8:38057122 C>T

NM_004095.4

p.R63W

c.187C>T

eIF_4EBP

Exome: 0.0% (AC=19, hom=0)Genome: 0.1% (AC=157, hom=0)19 overlapping SVs

4 papers

chr8:38057128 T>G

NM_004095.4

p.S65A

c.193T>G

eIF_4EBP

exact variant not in gnomAD19 overlapping SVs

3 papers

chr8:38030682 A>G

NM_004095.4

p.T37A

c.109A>G

eIF_4EBP

Exome: 0.0% (AC=0, hom=0)Genome: n/a19 overlapping SVs

3 papers

chr8:38030706 A>G

NM_004095.4

p.T45A

c.133A>G

eIF_4EBP

Exome: 0.0% (AC=0, hom=0)Genome: n/a19 overlapping SVs

3 papers

chr8:38057098 G>C

NM_004095.4

p.D55H

c.163G>C

eIF_4EBP

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=57, hom=0)19 overlapping SVs

3 papers

chr8:38057101 C>T

NM_004095.4

p.R56W

c.166C>T

eIF_4EBP

Exome: 0.0% (AC=36, hom=0)Genome: 0.1% (AC=65, hom=0)20 overlapping SVs

3 papers

chr8:38057129 C>T

NM_004095.4

p.S65L

c.194C>T

eIF_4EBP

Exome: 0.0% (AC=9, hom=0)Genome: 0.1% (AC=153, hom=0)19 overlapping SVs

3 papers

chr8:38057143 A>G

NM_004095.4

p.T70A

c.208A>G

eIF_4EBP

exact variant not in gnomAD19 overlapping SVs

2 papers

chr8:38030679 A>G

NM_004095.4

p.T36A

c.106A>G

eIF_4EBP

Exome: 0.0% (AC=0, hom=0)Genome: n/a19 overlapping SVs

2 papers

chr8:38057147 C>T

NM_004095.4

p.P71L

c.212C>T

eIF_4EBP

Exome: 0.0% (AC=7, hom=0)Genome: 0.1% (AC=156, hom=0)19 overlapping SVs

2 papers

chr8:38057199 G>C

NM_004095.4

p.E88D

c.264G>C

eIF_4EBP

exact variant not in gnomAD19 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."