Varaico: Literature-Extracted Genetic Variants

EEF2

245 papers

RefSeq Summary

This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascen...

Pfam Domains

GTP_EFTUaa 17–341UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 409–487UCSCElongation factor Tu domain 2

EFG_IIIaa 501–568UCSCElongation Factor G, domain III

EFG_IVaa 620–737UCSCElongation factor G, domain IV

EFG_Caa 739–828UCSCElongation factor G C-terminus

Gene Aliases

HGNC Name

eukaryotic translation elongation factor 2

HGNC Previous Symbol

EF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001961.4

p.C388Y

c.1163G>A

Surrounding Variants

1 paper

NM_001961.4

p.C388S

c.1163G>C

1 paper

NM_001961.4

p.C388S

c.1162T>A

1 paper

NM_001961.4

p.M395V

c.1183A>G

1 paper

NM_001961.4

p.M396I

c.1188G>T

1 paper

NM_001961.4

p.M396I

c.1188G>C

1 paper

NM_001961.4

p.M396I

c.1188G>A

1 paper

NM_001961.4

p.S399_K400del2

c.1195_1199del6

2 papers

NM_001961.4

p.P403insFs

c.1208_1209insT

1 paper

NM_001961.4

p.R409W

c.1225C>T

1 paper

NM_001961.4

p.R409G

c.1225C>G

1 paper

NM_001961.4

p.S418L

c.1253C>T

2 papers

NM_001961.4

p.V421insFs

c.1261_1262insTG