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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_001959.4

p.G4*

c.10G>T

1 paper

NM_001959.4

p.L15_N16insFs

c.45_46insT

1 paper

NM_001959.4

p.K22N

c.66G>C

1 paper

NM_001959.4

p.K22N

c.66G>T

2 papers

NM_001959.4

p.G27Splc

c.80+1G>C

1 paper

NM_001959.4

p.A36V

c.107C>T

1 paper

NM_001959.4

p.E39D

c.117A>T

4 papers

NM_001959.4

p.S43G

c.127A>G

1 paper

NM_001959.4

p.H51N

c.151C>A

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