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

2 papers

NM_001402.6

p.G32S

c.94G>A

Surrounding Variants

1 paper

NM_001402.6

p.G32C

c.94G>T

1 paper

NM_001402.6

p.Y29C

c.86A>G

1 paper

NM_001402.6

p.Y29S

c.86A>C

1 paper

NM_001402.6

p.K36E

c.106A>G

1 paper

NM_001402.6

p.I28V

c.82A>G

1 paper

NM_001402.6

p.R37K

c.110G>A

1 paper

NM_001402.6

p.H26P

c.77A>C

2 papers

NM_001402.6

p.T38S

c.112A>T

1 paper

NM_001402.6

p.T38A

c.112A>G

1 paper

NM_001402.6

p.G25G

c.75C>G

1 paper

NM_001402.6

p.T38N

c.113C>A

1 paper

NM_001402.6

p.G25G

c.75C>A