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.E68D

c.204A>T

Surrounding Variants

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

1 paper

NM_001402.6

p.E68Q

c.202G>C

2 papers

NM_001402.6

p.G70S

c.208G>A

1 paper

NM_001402.6

p.R67C

c.199C>T

1 paper

NM_001402.6

p.I71T

c.212T>C

1 paper

NM_001402.6

p.L63V

c.187C>G

3 papers

NM_001402.6

p.I75T

c.224T>C

1 paper

NM_001402.6

p.D61E

c.183T>A

1 paper

NM_001402.6

p.S76F

c.227C>T

1 paper

NM_001402.6

p.S76S

c.228C>T