Varaico: Literature-Extracted Genetic Variants

Gene:EEF1E1
Variant:p.K88R

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.K88R
c.263A>G
Surrounding Variants
1 paper
NM_004280.5
p.D90H
c.268G>C
1 paper
NM_004280.5
p.D83_S86delFs
c.248_257del10
1 paper
NM_004280.5
p.S86F
c.257C>T
1 paper
NM_004280.5
p.H85insFs
c.254_255insT
1 paper
NM_004280.5
p.H85ins3
c.253_254ins9
1 paper
NM_004280.5
p.D83insFs
c.249dupT
1 paper
NM_004280.5
p.V82_D83delFs
c.246_247delCT
1 paper
NM_004280.5
p.T93A
c.277A>G
1 paper
NM_004280.5
p.V82V
c.246A>T
1 paper
NM_004280.5
p.K96E
c.286A>G
1 paper
NM_004280.5
p.T80S
c.239C>G
1 paper
NM_004280.5
p.K96M
c.287A>T
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