Varaico: Literature-Extracted Genetic Variants

Gene:EEF1E1
Variant:p.I47insFs

EEF1E1

280 papers

RefSeq Summary

This gene encodes a multifunctional protein that localizes to both the cytoplasm and nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synth...

Pfam Domains

Arc1p_N_likeaa 67–153UCSCNuclear-export cofactor Arc1p

Gene Aliases

HGNC Name

eukaryotic translation elongation factor 1 epsilon 1

HGNC Previous Symbol

P18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004280.5
p.I47insFs
c.140_141insT
Surrounding Variants
1 paper
NM_004280.5
p.T46A
c.136A>G
1 paper
NM_004280.5
p.A49insFs
c.146dupC
1 paper
NM_004280.5
p.T45I
c.134C>T
1 paper
NM_004280.5
p.H50L
c.149A>T
1 paper
NM_004280.5
p.H50R
c.149A>G
1 paper
NM_004280.5
p.G43_L44del1
c.128_130delATC
1 paper
NM_004280.5
p.L51L
c.151C>T
1 paper
NM_004280.5
p.G43_L44insFs
c.129_130ins4
1 paper
NM_004280.5
p.L51P
c.152T>C
1 paper
NM_004280.5
p.K53E
c.157A>G
1 paper
NM_004280.5
p.Q54L
c.161A>T
1 paper
NM_004280.5
p.K53_Q54del1
c.158_160delGCT
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