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.K3E

c.7A>G

Surrounding Variants

1 paper

NM_001402.6

p.G2Fs

c.4delinsGAFs

2 papers

NM_001402.6

p.G2A

c.5G>C

1 paper

NM_001402.6

p.E4K

c.10G>A

1 paper

NM_001402.6

p.M1insFs

c.2dupT

2 papers

NM_001402.6

p.M1T

c.2T>C

1 paper

NM_001402.6

p.M1V

c.1A>G

3 papers

NM_001402.6

p.K5R

c.14A>G

1 paper

NM_001402.6

p.K5T

c.14A>C

1 paper

NM_001402.6

p.K5K

c.15G>A

1 paper

NM_001402.6

p.M1_T6del0

c.1_18del18

1 paper

NM_001402.6

p.I8V

c.22A>G

1 paper

NM_001402.6

p.I8fs

c.22_23fs