Varaico: Literature-Extracted Genetic Variants

EEF1B2

38 papers

RefSeq Summary

This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in ...

Pfam Domains

EF-1_beta_acidaa 103–130UCSCEukaryotic elongation factor 1 beta central acidic region

EF1_GNEaa 141–225UCSCEF-1 guanine nucleotide exchange domain

Gene Aliases

HGNC Name

eukaryotic translation elongation factor 1 beta 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001959.4

p.Y79*

c.237T>G

Surrounding Variants

1 paper

NM_001959.4

p.Y79*

c.237T>A

1 paper

NM_001959.4

p.Y79Y

c.237T>C

1 paper

NM_001959.4

p.K73R

c.218A>G

5 papers

NM_001959.4

p.G89R

c.265G>A

5 papers

NM_001959.4

p.G89R

c.265G>C

1 paper

NM_001959.4

p.E109A

c.326A>C

1 paper

NM_001959.4

p.E110_E111Splc

c.331-68T>G

2 papers

NM_001959.4

p.Y62*

c.186C>A

2 papers

NM_001959.4

p.Y62*

c.186C>G

2 papers

NM_001959.4

p.Y62insFs

c.185dupA

3 papers

NM_001959.4

p.S128*

c.383C>A

3 papers

NM_001959.4

p.S128*

c.383C>G