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.R830_A836del0

c.2490_2507del18

Surrounding Variants

1 paper

NM_001961.4

p.R830_A836del7

c.2488_2507del21

3 papers

NM_001961.4

p.E837D

c.2511G>T

3 papers

NM_001961.4

p.E837D

c.2511G>C

1 paper

NM_001961.4

p.R839H

c.2516G>A

1 paper

NM_001961.4

p.R841H

c.2522G>A

1 paper

NM_001961.4

p.R830H

c.2489G>A

3 papers

NM_001961.4

p.H816D

c.2446C>G

1 paper

NM_001961.4

p.P810P

c.2430C>T

1 paper

NM_001961.4

p.G806R

c.2416G>C

1 paper

NM_001961.4

p.T804M

c.2411C>T

1 paper

NM_001961.4

p.E792K

c.2374G>A

1 paper

NM_001961.4

p.V790I

c.2368G>A