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.E203G

c.608A>G

Surrounding Variants

1 paper

NM_001402.6

p.L202L

c.606G>A

1 paper

NM_001402.6

p.A206P

c.616G>C

1 paper

NM_001402.6

p.A206D

c.617C>A

1 paper

NM_001402.6

p.N197H

c.589A>C

1 paper

NM_001402.6

p.V188A

c.563T>C

1 paper

NM_001402.6

p.Y177fs

c.529_530fs

1 paper

NM_001402.6

p.E173K

c.517G>A

1 paper

NM_001402.6

p.I170S

c.509T>G

2 papers

NM_001402.6

p.P209L

c.626C>T

1 paper

NM_001402.6

p.F211I

c.631T>A

1 paper

NM_001402.6

p.T158I

c.473C>T

1 paper

NM_001402.6

p.G221S

c.661G>A