Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.V348F

EIF2B5

231 papers

RefSeq Summary

This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis...

Pfam Domains

W2aa 641–720UCSCeIF4-gamma/eIF5/eIF2-epsilon

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2B subunit epsilon

HGNC Alias Symbols

EIF2Bepsilon; EIF-2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003907.3
p.V348F
c.1042G>T
Surrounding Variants
1 paper
NM_003907.3
p.L350P
c.1049T>C
1 paper
NM_003907.3
p.G345A
c.1034G>C
2 papers
NM_003907.3
p.G351S
c.1051G>A
2 papers
NM_003907.3
p.H352Y
c.1054C>T
1 paper
NM_003907.3
p.R344*
c.1030C>T
9 papers
NM_003907.3
p.Y343C
c.1028A>G
1 paper
NM_003907.3
p.H352H
c.1056T>C
2 papers
NM_003907.3
p.I342T
c.1025T>C
1 paper
NM_003907.3
p.N341_I342del1
c.1022_1024delACA
9 papers
NM_003907.3
p.R339Q
c.1016G>A
15 papers
NM_003907.3
p.R339P
c.1016G>C
1 paper
NM_003907.3
p.R339L
c.1016G>T
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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."