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.A434A

c.1302G>A

Surrounding Variants

1 paper

NM_001402.6

p.G436V

c.1307G>T

6 papers

NM_001402.6

p.T432I

c.1295C>T

1 paper

NM_001402.6

p.V437delFs

c.1309delC

3 papers

NM_001402.6

p.T432S

c.1294A>T

1 paper

NM_001402.6

p.I438F

c.1312A>T

1 paper

NM_001402.6

p.Q431R

c.1292A>G

1 paper

NM_001402.6

p.V441M

c.1321G>A

1 paper

NM_001402.6

p.D428N

c.1282G>A

1 paper

NM_001402.6

p.D442H

c.1324G>C

1 paper

NM_001402.6

p.D442N

c.1324G>A

1 paper

NM_001402.6

p.R427C

c.1279C>T

1 paper

NM_001402.6

p.D442A

c.1325A>C