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.L63V

c.187C>G

Surrounding Variants

1 paper

NM_001402.6

p.D61E

c.183T>A

1 paper

NM_001402.6

p.L60S

c.179T>C

1 paper

NM_001402.6

p.L60M

c.178T>A

1 paper

NM_001402.6

p.V59V

c.177C>A

1 paper

NM_001402.6

p.R67C

c.199C>T

1 paper

NM_001402.6

p.W58R

c.172T>A

1 paper

NM_001402.6

p.E68Q

c.202G>C

1 paper

NM_001402.6

p.A57G

c.170C>G

1 paper

NM_001402.6

p.E68D

c.204A>T

1 paper

NM_001402.6

p.E68D

c.204A>C

2 papers

NM_001402.6

p.R69L

c.206G>T

1 paper

NM_001402.6

p.R69P

c.206G>C