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.N21T

c.62A>C

Surrounding Variants

1 paper

NM_001961.4

p.N21N

c.63C>T

1 paper

NM_001961.4

p.I19S

c.56T>G

1 paper

NM_001961.4

p.I19T

c.56T>C

1 paper

NM_001961.4

p.V24F

c.70G>T

1 paper

NM_001961.4

p.V24D

c.71T>A

1 paper

NM_001961.4

p.N18S

c.53A>G

1 paper

NM_001961.4

p.I25V

c.73A>G

3 papers

NM_001961.4

p.A26G

c.77C>G

1 paper

NM_001961.4

p.K16R

c.47A>G

1 paper

NM_001961.4

p.K15insFs

c.45dupG

1 paper

NM_001961.4

p.H27N

c.79C>A

1 paper

NM_001961.4

p.K15M

c.44A>T