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.W149L

c.446G>T

Surrounding Variants

1 paper

NM_001959.4

p.A156V

c.467C>T

1 paper

NM_001959.4

p.Q166H

c.498A>C

1 paper

NM_001959.4

p.Q166H

c.498A>T

2 papers

NM_001959.4

p.Y213C

c.638A>G

1 paper

NM_001959.4

p.D218A

c.653A>C

1 paper

NM_001959.4

p.K224R

c.671A>G

1 paper

NM_001959.4

p.I225M

c.675C>G

3 papers

NM_001959.4

p.S128*

c.383C>A

3 papers

NM_001959.4

p.S128*

c.383C>G

1 paper

NM_001959.4

p.E110_E111Splc

c.331-68T>G

1 paper

NM_001959.4

p.E109A

c.326A>C

5 papers

NM_001959.4

p.G89R

c.265G>A