Varaico: Literature-Extracted Genetic Variants

Gene:EEF1E1
Variant:p.N20delFs

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.N20delFs
c.58_59delTT
Surrounding Variants
1 paper
NM_004280.5
p.G19_N20insFs
c.57_58ins5
1 paper
NM_004280.5
p.K21*
c.61A>T
1 paper
NM_004280.5
p.K21Q
c.61A>C
1 paper
NM_004280.5
p.N20insFs
c.58_59insG
1 paper
NM_004280.5
p.Y22_S23insCGG
c.64_68ins9
1 paper
NM_004280.5
p.G19insFs
c.56_57insA
1 paper
NM_004280.5
p.K18delFs
c.53_54delCT
1 paper
NM_004280.5
p.K18R
c.53A>G
1 paper
NM_004280.5
p.S23insFs
c.67_68insA
1 paper
NM_004280.5
p.S23R
c.69T>A
1 paper
NM_004280.5
p.A24insFs
c.70_71insC
1 paper
NM_004280.5
p.A24V
c.71C>T
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