Varaico: Literature-Extracted Genetic Variants

EEF1A2

412 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 2) 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 2

HGNC Previous Symbol

STNL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001958.5

p.M102V

c.304A>G

Surrounding Variants

1 paper

NM_001958.5

p.T104R

c.311C>G

9 papers

NM_001958.5

p.F98L

c.294C>G

9 papers

NM_001958.5

p.F98L

c.294C>A

3 papers

NM_001958.5

p.F98C

c.293T>G

9 papers

NM_001958.5

p.F98L

c.292T>C

1 paper

NM_001958.5

p.D97H

c.289G>C

2 papers

NM_001958.5

p.D97N

c.289G>A

2 papers

NM_001958.5

p.R96L

c.287G>T

1 paper

NM_001958.5

p.R96H

c.287G>A

2 papers

NM_001958.5

p.R96C

c.286C>T

1 paper

NM_001958.5

p.Q108insFs

c.323_324ins10

1 paper

NM_001958.5

p.G94S

c.280G>A