Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.L106F

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
15 papers
NM_003907.3
p.L106F
c.318A>T
Surrounding Variants
15 papers
NM_003907.3
p.L106F
c.318A>C
1 paper
NM_003907.3
p.L107Splc
c.320+1G>A
3 papers
NM_003907.3
p.H105R
c.314A>G
1 paper
NM_003907.3
p.K103*
c.307A>T
1 paper
NM_003907.3
p.I102M
c.306C>G
2 papers
NM_003907.3
p.Q101insFs
c.302dupA
1 paper
NM_003907.3
p.Q101fs
c.301_302fs
2 papers
NM_003907.3
p.A100V
c.299C>T
1 paper
NM_003907.3
p.A100_Q101delFs
c.298_301del4
1 paper
NM_003907.3
p.W97L
c.290G>T
39 papers
NM_003907.3
p.T91A
c.271A>G
4 papers
NM_003907.3
p.T86_F94delFs
c.256_281del26
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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."