Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.R339L

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.R339L
c.1016G>T
Surrounding Variants
9 papers
NM_003907.3
p.R339Q
c.1016G>A
15 papers
NM_003907.3
p.R339P
c.1016G>C
14 papers
NM_003907.3
p.R339W
c.1015C>T
1 paper
NM_003907.3
p.N341_I342del1
c.1022_1024delACA
4 papers
NM_003907.3
p.H337R
c.1010A>G
2 papers
NM_003907.3
p.I342T
c.1025T>C
9 papers
NM_003907.3
p.Y343C
c.1028A>G
8 papers
NM_003907.3
p.C335S
c.1004G>C
6 papers
NM_003907.3
p.C335S
c.1003T>A
3 papers
NM_003907.3
p.C335R
c.1003T>C
1 paper
NM_003907.3
p.R344*
c.1030C>T
1 paper
NM_003907.3
p.S334G
c.1000A>G
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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."