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.P575Q

c.1724C>A

Surrounding Variants

1 paper

NM_001961.4

p.P575L

c.1724C>T

1 paper

NM_001961.4

p.S584G

c.1750A>G

1 paper

NM_001961.4

p.E585G

c.1754A>G

1 paper

NM_001961.4

p.E586Q

c.1756G>C

1 paper

NM_001961.4

p.K594R

c.1781A>G

1 paper

NM_001961.4

p.S595A

c.1783T>G

9 papers

NM_001961.4

p.P596H

c.1787C>A

1 paper

NM_001961.4

p.R601Q

c.1802G>A

1 paper

NM_001961.4

p.E615K

c.1843G>A

1 paper

NM_001961.4

p.I617T

c.1850T>C

1 paper

NM_001961.4

p.Q630fs

c.1888_1889fs

1 paper

NM_001961.4

p.K629insFs

c.1887dupG