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

2 papers

NM_001958.5

p.R166H

c.497G>A

Surrounding Variants

2 papers

NM_001958.5

p.E169K

c.505G>A

1 paper

NM_001958.5

p.V171I

c.511G>A

1 paper

NM_001958.5

p.K172*

c.514A>T

1 paper

NM_001958.5

p.P160L

c.479C>T

1 paper

NM_001958.5

p.E173G

c.518A>G

1 paper

NM_001958.5

p.V171_K172del2

c.511_515del6

9 papers

NM_001958.5

p.V174A

c.521T>C

1 paper

NM_001958.5

p.T158A

c.472A>G

1 paper

NM_001958.5

p.S175R

c.523A>C

1 paper

NM_001958.5

p.S175R

c.525C>G

1 paper

NM_001958.5

p.S175R

c.525C>A

2 papers

NM_001958.5

p.A176S

c.526G>T