Varaico: Literature-Extracted Genetic Variants

EIF2B3

148 papers

RefSeq Summary

The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function...

Pfam Domains

NTP_transferaseaa 4–140UCSCNucleotidyl transferase

LbH_EIF2Baa 340–438UCSCEIF2B subunit epsilon LbH domain

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2B subunit gamma

HGNC Alias Symbols

EIF2Bgamma; EIF-2B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_020365.5

p.Q136P

c.407A>C

Surrounding Variants

1 paper

NM_020365.5

p.Q136*

c.406C>T

1 paper

NM_020365.5

p.L131V

c.391T>G

2 papers

NM_020365.5

p.M130T

c.389T>C

1 paper

NM_020365.5

p.D125E

c.375T>A

1 paper

NM_020365.5

p.G147R

c.439G>C

1 paper

NM_020365.5

p.G147R

c.439G>A

3 papers

NM_020365.5

p.K148E

c.442A>G

1 paper

NM_020365.5

p.K146_G147delFs

c.438_441del4

2 papers

NM_020365.5

p.K150fs

c.448_449fs

3 papers

NM_020365.5

p.K150insFs

c.450dupA

4 papers

NM_020365.5

p.K150delFs

c.450delT

1 paper

NM_020365.5

p.K150delFs

c.449_450delTT