Varaico: Literature-Extracted Genetic Variants

EEF1G

41 papers

RefSeq Summary

This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione tran...

Pfam Domains

GST_Naa 2–81UCSCGlutathione S-transferase, N-terminal domain

GST_Caa 106–198UCSCGlutathione S-transferase, C-terminal domain

EF1Gaa 275–381UCSCElongation factor 1 gamma, conserved domain

Gene Aliases

HGNC Name

eukaryotic translation elongation factor 1 gamma

HGNC Alias Symbol

EF1G

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001404.5

p.P47fs

c.139_140fs

Surrounding Variants

1 paper

NM_001404.5

p.R51P

c.152G>C

1 paper

NM_001404.5

p.R30H

c.89G>A

1 paper

NM_001404.5

p.Q28K

c.82C>A

1 paper

NM_001404.5

p.G86V

c.257G>T

1 paper

NM_001404.5

p.Q94*

c.280C>T

1 paper

NM_001404.5

p.Q97K

c.289C>A

1 paper

NM_001404.5

p.D105N

c.313G>A

1 paper

NM_001404.5

p.L118V

c.352T>G

1 paper

NM_001404.5

p.G4V

c.11G>T

1 paper

NM_001404.5

p.A2A

c.6G>T

1 paper

NM_001404.5

p.A131V

c.392C>T

1 paper

NM_001404.5

p.T148M

c.443C>T