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.I294T

c.881T>C

Surrounding Variants

1 paper

NM_001415.4

p.E293del1

c.877_879delGAG

1 paper

NM_001415.4

p.V301V

c.903T>C

1 paper

NM_001415.4

p.P313A

c.937C>G

1 paper

NM_001415.4

p.I318L

c.952A>C

1 paper

NM_001415.4

p.I318V

c.952A>G

1 paper

NM_001415.4

p.I318N

c.953T>A

3 papers

NM_001415.4

p.I318M

c.954T>G

1 paper

NM_001415.4

p.S320A

c.958T>G

1 paper

NM_001415.4

p.G334D

c.1001G>A

1 paper

NM_001415.4

p.G334V

c.1001G>T

1 paper

NM_001415.4

p.G335S

c.1003G>A

1 paper

NM_001415.4

p.G335D

c.1004G>A