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.E270Q

c.808G>C

Surrounding Variants

1 paper

NM_001415.4

p.C269Y

c.806G>A

1 paper

NM_001415.4

p.C269F

c.806G>T

3 papers

NM_001415.4

p.C269G

c.805T>G

2 papers

NM_001415.4

p.L274V

c.820C>G

10 papers

NM_001415.4

p.I259M

c.777T>G

1 paper

NM_001415.4

p.K289_V290Splc

c.867+18T>G

1 paper

NM_001415.4

p.I257V

c.769A>G

1 paper

NM_001415.4

p.E237D

c.711G>C

1 paper

NM_001415.4

p.E237K

c.709G>A

1 paper

NM_001415.4

p.I232N

c.695T>A

1 paper

NM_001415.4

p.Q227R

c.680A>G

1 paper

NM_001415.4

p.I224S

c.671T>G