Varaico: Literature-Extracted Genetic Variants

Gene:EIF2S2
Variant:p.D65E

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.D65E
c.195T>G
Surrounding Variants
1 paper
NM_003908.5
p.D65E
c.195T>A
1 paper
NM_003908.5
p.K82_K83insFs
c.246_247insAA
1 paper
NM_003908.5
p.K83insFs
c.248_249insG
1 paper
NM_003908.5
p.T85insFs
c.253dupA
1 paper
NM_003908.5
p.K86*
c.256A>T
1 paper
NM_003908.5
p.D92N
c.274G>A
1 paper
NM_003908.5
p.G97D
c.290G>A
1 paper
NM_003908.5
p.K64delFs
c.192delT
1 paper
NM_003908.5
p.R62W
c.184A>T
1 paper
NM_003908.5
p.P48_E59del12
c.142_176del36
1 paper
NM_003908.5
p.P48T
c.142C>A
1 paper
NM_003908.5
p.P46L
c.137C>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."