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

4 papers

NM_001402.6

p.Q352K

c.1054C>A

Surrounding Variants

1 paper

NM_001402.6

p.Q352E

c.1054C>G

1 paper

NM_001402.6

p.G351delFs

c.1052delC

2 papers

NM_001402.6

p.H349Y

c.1045C>T

1 paper

NM_001402.6

p.N348K

c.1044C>G

1 paper

NM_001402.6

p.N348K

c.1044C>A

2 papers

NM_001402.6

p.A355A

c.1065C>T

1 paper

NM_001402.6

p.I345_L347del3

c.1033_1040del9

1 paper

NM_001402.6

p.V344V

c.1032G>A

2 papers

NM_001402.6

p.D362Y

c.1084G>T

1 paper

NM_001402.6

p.D362H

c.1084G>C

2 papers

NM_001402.6

p.A366S

c.1096G>T

2 papers

NM_001402.6

p.S383F

c.1148C>T