Varaico: Literature-Extracted Genetic Variants

Gene:EIF2S2
Variant:p.N254S

EIF2S2

48 papers

RefSeq Summary

Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EI...

Pfam Domains

eIF-5_eIF-2Baa 192–308UCSCDomain found in IF2B/IF5

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2 subunit beta

HGNC Previous Symbol

EIF2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003908.5
p.N254S
c.761A>G
Surrounding Variants
1 paper
NM_003908.5
p.G248_S249insG
c.742_746ins3
1 paper
NM_003908.5
p.V270L
c.808G>C
2 papers
NM_003908.5
p.R325*
c.973C>T
1 paper
NM_003908.5
p.R325G
c.973C>G
2 papers
NM_003908.5
p.R325P
c.974G>C
1 paper
NM_003908.5
p.T246_S247insAA
c.736_740ins6
1 paper
NM_003908.5
p.R231G
c.691C>G
1 paper
NM_003908.5
p.K227Q
c.679A>C
1 paper
NM_003908.5
p.E189K
c.565G>A
1 paper
NM_003908.5
p.S160N
c.479G>A
2 papers
NM_003908.5
p.K128*
c.382A>T
1 paper
NM_003908.5
p.L101P
c.302T>C
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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."