Varaico: Literature-Extracted Genetic Variants

Gene:EIF2S2
Variant:p.M1R

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.M1R
c.2T>G
Surrounding Variants
2 papers
NM_003908.5
p.M1T
c.2T>C
1 paper
NM_003908.5
p.M1V
c.1A>G
1 paper
NM_003908.5
p.G3E
c.8G>A
1 paper
NM_003908.5
p.M6_I7delFs
c.16_20del5
1 paper
NM_003908.5
p.K16_K20del0
c.48_59del12
1 paper
NM_003908.5
p.K16_K20del5
c.46_59del15
2 papers
NM_003908.5
p.K21del1
c.61_62delCTT
1 paper
NM_003908.5
p.P22H
c.65C>A
1 paper
NM_003908.5
p.G29R
c.85G>A
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.S39P
c.115T>C
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