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.G126A

c.377G>C

Surrounding Variants

1 paper

NM_001402.6

p.I127T

c.380T>C

1 paper

NM_001402.6

p.A125D

c.374C>A

1 paper

NM_001402.6

p.S128insFs

c.384dupC

1 paper

NM_001402.6

p.G121_E122del2

c.361_365del6

1 paper

NM_001402.6

p.K129fs

c.385_386fs

1 paper

NM_001402.6

p.E122Q

c.364G>C

1 paper

NM_001402.6

p.G119S

c.355G>A

1 paper

NM_001402.6

p.A118V

c.353C>T

2 papers

NM_001402.6

p.A118T

c.352G>A

2 papers

NM_001402.6

p.A117V

c.350C>T

1 paper

NM_001402.6

p.I115_V116del1

c.345_347delACA

1 paper

NM_001402.6

p.A117T

c.349G>A