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.N153D

c.457A>G

Surrounding Variants

1 paper

NM_001402.6

p.N153T

c.458A>C

4 papers

NM_001402.6

p.D156N

c.466G>A

1 paper

NM_001402.6

p.D156E

c.468T>G

1 paper

NM_001402.6

p.D156E

c.468T>A

1 paper

NM_001402.6

p.I149L

c.445A>C

1 paper

NM_001402.6

p.T158I

c.473C>T

1 paper

NM_001402.6

p.K146I

c.437A>T

1 paper

NM_001402.6

p.K146E

c.436A>G

1 paper

NM_001402.6

p.T142I

c.425C>T

1 paper

NM_001402.6

p.T142A

c.424A>G

1 paper

NM_001402.6

p.A140V

c.419C>T

1 paper

NM_001402.6

p.L138R

c.413T>G