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

Selected Variant

1 paper

NM_001415.4

p.V151_M152delFs

c.453_454delGA

Surrounding Variants

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.M145V

c.433A>G

1 paper

NM_001415.4

p.T144N

c.431C>A

3 papers

NM_001415.4

p.T144I

c.431C>T

2 papers

NM_001415.4

p.I159L

c.475A>C

2 papers

NM_001415.4

p.I159L

c.475A>T

1 paper

NM_001415.4

p.P136S

c.406C>T

1 paper

NM_001415.4

p.V133I

c.397G>A

1 paper

NM_001415.4

p.V130fs

c.388_389fs

1 paper

NM_001415.4

p.H129_V130delFs

c.387_388delTG

1 paper

NM_001415.4

p.G161C

c.481G>T