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.R37K

c.110G>A

Surrounding Variants

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.T38N

c.113C>A

1 paper

NM_001402.6

p.K36E

c.106A>G

1 paper

NM_001402.6

p.E40K

c.118G>A

1 paper

NM_001402.6

p.K41delFs

c.121_122delTT

1 paper

NM_001402.6

p.G32C

c.94G>T

2 papers

NM_001402.6

p.G32S

c.94G>A

1 paper

NM_001402.6

p.E43Q

c.127G>C

2 papers

NM_001402.6

p.K44E

c.130A>G

1 paper

NM_001402.6

p.K44N

c.132G>T

1 paper

NM_001402.6

p.Y29C

c.86A>G