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

2 papers

NM_001404.5

p.I342L

c.1024A>C

Surrounding Variants

2 papers

NM_001404.5

p.R327C

c.979C>T

1 paper

NM_001404.5

p.K316*

c.946A>T

1 paper

NM_001404.5

p.V289A

c.866T>C

1 paper

NM_001404.5

p.P385_L386Splc

c.1156-92C>T

1 paper

NM_001404.5

p.P385_L386Splc

c.1156-32A>G

1 paper

NM_001404.5

p.D403E

c.1209T>G

1 paper

NM_001404.5

p.D403E

c.1209T>A

1 paper

NM_001404.5

p.A256V

c.767C>T

1 paper

NM_001404.5

p.K252E

c.754A>G

1 paper

NM_001404.5

p.R248Q

c.743G>A

1 paper

NM_001404.5

p.A246V

c.737C>T

1 paper

NM_001404.5

p.G205G

c.615C>G