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.G82A

c.245G>C

Surrounding Variants

1 paper

NM_001415.4

p.R75K

c.224G>A

2 papers

NM_001415.4

p.E74K

c.220G>A

1 paper

NM_001415.4

p.E74*

c.220G>T

1 paper

NM_001415.4

p.L73R

c.218T>G

1 paper

NM_001415.4

p.A60T

c.178G>A

1 paper

NM_001415.4

p.K90R

c.269A>G

1 paper

NM_001415.4

p.T46K

c.137C>A

2 papers

NM_001415.4

p.T46I

c.137C>T

1 paper

NM_001415.4

p.D92N

c.274G>A

2 papers

NM_001415.4

p.R98R

c.294G>A

1 paper

NM_001415.4

p.P99L

c.296C>T

9 papers

NM_001415.4

p.S108R

c.322A>C