Varaico: Literature-Extracted Genetic Variants

Gene:EIF2S2
Variant:p.S39P

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.S39P
c.115T>C
Surrounding Variants
1 paper
NM_003908.5
p.E35*
c.103G>T
1 paper
NM_003908.5
p.E35K
c.103G>A
1 paper
NM_003908.5
p.P46T
c.136C>A
1 paper
NM_003908.5
p.P46L
c.137C>T
1 paper
NM_003908.5
p.P48T
c.142C>A
1 paper
NM_003908.5
p.G29R
c.85G>A
1 paper
NM_003908.5
p.P22H
c.65C>A
2 papers
NM_003908.5
p.K21del1
c.61_62delCTT
1 paper
NM_003908.5
p.K16_K20del5
c.46_59del15
1 paper
NM_003908.5
p.K16_K20del0
c.48_59del12
1 paper
NM_003908.5
p.P48_E59del12
c.142_176del36
1 paper
NM_003908.5
p.R62W
c.184A>T
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