Varaico: Literature-Extracted Genetic Variants

EEF1A1

320 papers

RefSeq Summary

This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expr...

Pfam Domains

GTP_EFTUaa 5–238UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 260–327UCSCElongation factor Tu domain 2

GTP-eEF1A_Caa 339–439UCSCGTP-eEF1A C-terminal domain-like

Gene Aliases

HGNC Name

eukaryotic translation elongation factor 1 alpha 1

HGNC Previous Symbols

EF1A; LENG7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001402.6

p.H95_R96delFs

c.285_286delTG

Surrounding Variants

1 paper

NM_001402.6

p.R96K

c.287G>A

3 papers

NM_001402.6

p.D97N

c.289G>A

1 paper

NM_001402.6

p.D97A

c.290A>C

1 paper

NM_001402.6

p.H95fs

c.283_284fs

2 papers

NM_001402.6

p.G94A

c.281G>C

1 paper

NM_001402.6

p.G94R

c.280G>A

1 paper

NM_001402.6

p.P93P

c.279A>T

1 paper

NM_001402.6

p.K100*

c.298A>T

1 paper

NM_001402.6

p.K100E

c.298A>G

1 paper

NM_001402.6

p.A92S

c.274G>T

1 paper

NM_001402.6

p.A92T

c.274G>A

1 paper

NM_001402.6

p.M102T

c.305T>C