Varaico: Literature-Extracted Genetic Variants

Gene:EEF1E1
Variant:p.L16P

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
3 papers
NM_004280.5
p.L16P
c.47T>C
Surrounding Variants
1 paper
NM_004280.5
p.L16L
c.48G>T
1 paper
NM_004280.5
p.L16L
c.48G>C
1 paper
NM_004280.5
p.K18R
c.53A>G
1 paper
NM_004280.5
p.K18delFs
c.53_54delCT
1 paper
NM_004280.5
p.G19insFs
c.56_57insA
1 paper
NM_004280.5
p.S13F
c.38C>T
1 paper
NM_004280.5
p.N20insFs
c.58_59insG
1 paper
NM_004280.5
p.G19_N20insFs
c.57_58ins5
1 paper
NM_004280.5
p.N20delFs
c.58_59delTT
1 paper
NM_004280.5
p.L9_E11insFs
c.26_33dup8
1 paper
NM_004280.5
p.E11E
c.33G>A
1 paper
NM_004280.5
p.K21*
c.61A>T
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