Varaico: Literature-Extracted Genetic Variants

EIF2S3

83 papers

RefSeq Summary

The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by RefSeq, Jan...

Pfam Domains

GTP_EFTUaa 39–245UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 276–359UCSCElongation factor Tu domain 2

eIF2_Caa 369–459UCSCInitiation factor eIF2 gamma, C terminal

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2 subunit gamma

HGNC Previous Symbol

EIF2G

Papers

RefSeq ID

Protein change

DNA change

1–12 of 119 variants

13 papers

NM_001415.4

p.I222T

c.665T>C

13 papers

NM_001415.4

p.I465fs

c.1393_1394fs

10 papers

NM_001415.4

p.I259M

c.777T>G

9 papers

NM_001415.4

p.S108R

c.322A>C

9 papers

NM_001415.4

p.S108R

c.324T>A

9 papers

NM_001415.4

p.S108R

c.324T>G

9 papers

NM_001415.4

p.P432S

c.1294C>T

8 papers

NM_001415.4

p.I465_K466delFs

c.1394_1397del4

7 papers

NM_001415.4

p.V151L

c.451G>C

7 papers

NM_001415.4

p.V151L

c.451G>T

3 papers

NM_001415.4

p.T144I

c.431C>T

3 papers

NM_001415.4

p.M145V

c.433A>G