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.K629insFs

c.1887dupG

Surrounding Variants

1 paper

NM_001961.4

p.Q630fs

c.1888_1889fs

1 paper

NM_001961.4

p.Q630R

c.1889A>G

1 paper

NM_001961.4

p.Q630fs

c.1888_1889fs

1 paper

NM_001961.4

p.Q630delFs

c.1890delC

1 paper

NM_001961.4

p.Q630_A632delFs

c.1889_1895del7

1 paper

NM_001961.4

p.R633C

c.1897C>T

1 paper

NM_001961.4

p.A636D

c.1907C>A

1 paper

NM_001961.4

p.K638E

c.1912A>G

1 paper

NM_001961.4

p.K638Q

c.1912A>C

1 paper

NM_001961.4

p.K638K

c.1914G>A

1 paper

NM_001961.4

p.E640G

c.1919A>G

1 paper

NM_001961.4

p.E640A

c.1919A>C