Varaico: Literature-Extracted Genetic Variants

Gene:EEF1E1
Variant:p.A2delFs

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.A2delFs
c.4delC
Surrounding Variants
3 papers
NM_004280.5
p.M1insFs
c.3dupG
1 paper
NM_004280.5
p.A2E
c.5C>A
1 paper
NM_004280.5
p.A2_A3insFs
c.6_7insT
1 paper
NM_004280.5
p.M1I
c.3G>T
1 paper
NM_004280.5
p.M1insFs
c.2dupT
1 paper
NM_004280.5
p.M1insFs
c.1_2dupAT
1 paper
NM_004280.5
p.M1I
c.3G>C
1 paper
NM_004280.5
p.M1I
c.3G>A
2 papers
NM_004280.5
p.M1T
c.2T>C
2 papers
NM_004280.5
p.M1K
c.2T>A
1 paper
NM_004280.5
p.M1_A3delFs
c.3_7del5
1 paper
NM_004280.5
p.A3ins1
c.8_9insCCC
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