Varaico: Literature-Extracted Genetic Variants

Gene:EEF1E1
Variant:p.A55G

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.A55G
c.164C>G
Surrounding Variants
1 paper
NM_004280.5
p.K53_Q54del2
c.157_161del6
1 paper
NM_004280.5
p.K53_Q54del1
c.158_160delGCT
1 paper
NM_004280.5
p.Q54L
c.161A>T
1 paper
NM_004280.5
p.N56S
c.167A>G
1 paper
NM_004280.5
p.K57R
c.170A>G
1 paper
NM_004280.5
p.K57N
c.171A>T
1 paper
NM_004280.5
p.K53E
c.157A>G
1 paper
NM_004280.5
p.E58*
c.172G>T
1 paper
NM_004280.5
p.L51P
c.152T>C
1 paper
NM_004280.5
p.Y59delFs
c.176delT
1 paper
NM_004280.5
p.L51L
c.151C>T
1 paper
NM_004280.5
p.E58_Y59del2
c.172_176del6
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