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

1–12 of 31 variants

5 papers

NM_001959.4

p.G89R

c.265G>A

5 papers

NM_001959.4

p.G89R

c.265G>C

4 papers

NM_001959.4

p.S43G

c.127A>G

3 papers

NM_001959.4

p.S128*

c.383C>A

3 papers

NM_001959.4

p.S128*

c.383C>G

2 papers

NM_001959.4

p.G27Splc

c.80+1G>C

2 papers

NM_001959.4

p.Y62insFs

c.185dupA

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.Y213C

c.638A>G

1 paper

NM_001959.4

p.M1T

c.2T>C

1 paper

NM_001959.4

p.G4*

c.10G>T