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

2 papers

NM_001402.6

p.P209L

c.626C>T

Surrounding Variants

1 paper

NM_001402.6

p.F211I

c.631T>A

1 paper

NM_001402.6

p.G221S

c.661G>A

1 paper

NM_001402.6

p.A223S

c.667G>T

1 paper

NM_001402.6

p.S224G

c.670A>G

1 paper

NM_001402.6

p.E230K

c.688G>A

1 paper

NM_001402.6

p.C234W

c.702C>G

1 paper

NM_001402.6

p.P237fs

c.709_710fs

1 paper

NM_001402.6

p.P237delFs

c.709_710delGG

1 paper

NM_001402.6

p.A206D

c.617C>A

1 paper

NM_001402.6

p.A206P

c.616G>C

1 paper

NM_001402.6

p.T242A

c.724A>G

1 paper

NM_001402.6

p.E203G

c.608A>G