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.E135V

c.404A>T

Surrounding Variants

2 papers

NM_001958.5

p.R134R

c.402G>A

2 papers

NM_001958.5

p.R134L

c.401G>T

1 paper

NM_001958.5

p.T133M

c.398C>T

1 paper

NM_001958.5

p.T133P

c.397A>C

1 paper

NM_001958.5

p.G131R

c.391G>C

1 paper

NM_001958.5

p.G131R

c.391G>A

9 papers

NM_001958.5

p.N130D

c.388A>G

1 paper

NM_001958.5

p.T142A

c.424A>G

2 papers

NM_001958.5

p.T142M

c.425C>T

1 paper

NM_001958.5

p.V145A

c.434T>C

3 papers

NM_001958.5

p.A125E

c.374C>A

1 paper

NM_001958.5

p.G144_V145del0

c.430_435del6