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

1 paper

NM_001958.5

p.Y56*

c.168T>G

Surrounding Variants

1 paper

NM_001958.5

p.A57_W58delins

c.171_172delinsAA

1 paper

NM_001958.5

p.A57_W58delFs

c.171_172delAG

1 paper

NM_001958.5

p.W58insFs

c.174dupG

1 paper

NM_001958.5

p.D61Y

c.181G>T

1 paper

NM_001958.5

p.D61H

c.181G>C

1 paper

NM_001958.5

p.D61A

c.182A>C

1 paper

NM_001958.5

p.L63P

c.188T>C

1 paper

NM_001958.5

p.M49K

c.146T>A

3 papers

NM_001958.5

p.E48_M49Splc

c.145-1G>A

1 paper

NM_001958.5

p.E68delFs

c.202delC

28 papers

NM_001958.5

p.G70S

c.208G>A

9 papers

NM_001958.5

p.I71L

c.211A>C