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.R445L

c.1334G>T

Surrounding Variants

1 paper

NM_001415.4

p.R445P

c.1334G>C

1 paper

NM_001415.4

p.I441fs

c.1321_1322fs

9 papers

NM_001415.4

p.P432S

c.1294C>T

1 paper

NM_001415.4

p.I408T

c.1223T>C

1 paper

NM_001415.4

p.V406M

c.1216G>A

1 paper

NM_001415.4

p.E387_G388del2

c.1159_1163del6

1 paper

NM_001415.4

p.E366K

c.1096G>A

1 paper

NM_001415.4

p.L364L

c.1090T>C

1 paper

NM_001415.4

p.Q356L

c.1067A>T

1 paper

NM_001415.4

p.V354fs

c.1060_1061fs

1 paper

NM_001415.4

p.R352K

c.1055G>A

1 paper

NM_001415.4

p.R352fs

c.1054_1055fs