Varaico: Literature-Extracted Genetic Variants

Gene:EEF1E1
Variant:p.P39delFs

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.P39delFs
c.117delT
Surrounding Variants
1 paper
NM_004280.5
p.S40T
c.119G>C
1 paper
NM_004280.5
p.P39L
c.116C>T
1 paper
NM_004280.5
p.P39insFs
c.116_117insA
1 paper
NM_004280.5
p.P39insFs
c.115_116ins5
1 paper
NM_004280.5
p.G38insFs
c.113dupG
1 paper
NM_004280.5
p.G38D
c.113G>A
1 paper
NM_004280.5
p.N37insFs
c.110dupA
1 paper
NM_004280.5
p.G43_L44insFs
c.129_130ins4
1 paper
NM_004280.5
p.G43_L44del1
c.128_130delATC
1 paper
NM_004280.5
p.T45I
c.134C>T
1 paper
NM_004280.5
p.L33_T35Fs
c.98_104delinsTCCFs
1 paper
NM_004280.5
p.T46A
c.136A>G
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