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

1 paper

NM_001961.4

p.A47G

c.140C>G

Surrounding Variants

1 paper

NM_001961.4

p.G44S

c.130G>A

1 paper

NM_001961.4

p.G52E

c.155G>A

1 paper

NM_001961.4

p.V40E

c.119T>A

1 paper

NM_001961.4

p.S38F

c.113C>T

1 paper

NM_001961.4

p.D37_S38insFs

c.111_112ins14

1 paper

NM_001961.4

p.D58A

c.173A>C

1 paper

NM_001961.4

p.L35insFs

c.104_105insA

1 paper

NM_001961.4

p.L35P

c.104T>C

2 papers

NM_001961.4

p.L35delFs

c.103delG

1 paper

NM_001961.4

p.T59insFs

c.175dupA

1 paper

NM_001961.4

p.T34R

c.101C>G

1 paper

NM_001961.4

p.K32R

c.95A>G