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

1–12 of 217 variants

28 papers

NM_001958.5

p.G70S

c.208G>A

26 papers

NM_001958.5

p.E122K

c.364G>A

18 papers

NM_001958.5

p.D91N

c.271G>A

17 papers

NM_001958.5

p.D252H

c.754G>C

12 papers

NM_001958.5

p.E124K

c.370G>A

11 papers

NM_001958.5

p.R266W

c.796C>T

9 papers

NM_001958.5

p.I71L

c.211A>C

9 papers

NM_001958.5

p.F98L

c.292T>C

9 papers

NM_001958.5

p.F98L

c.294C>G

9 papers

NM_001958.5

p.F98L

c.294C>A

9 papers

NM_001958.5

p.N130D

c.388A>G

9 papers

NM_001958.5

p.V174A

c.521T>C