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.P723P

c.2169C>A

Surrounding Variants

1 paper

NM_001961.4

p.Q720_I721del2

c.2158_2162del6

1 paper

NM_001961.4

p.G719R

c.2155G>C

1 paper

NM_001961.4

p.L729fs

c.2185_2186fs

1 paper

NM_001961.4

p.C728delFs

c.2184delG

4 papers

NM_001961.4

p.G717R

c.2149G>C

4 papers

NM_001961.4

p.G717R

c.2149G>A

1 paper

NM_001961.4

p.I714N

c.2141T>A

3 papers

NM_001961.4

p.A736V

c.2207C>T

1 paper

NM_001961.4

p.F702_D703insCG

c.2104_2108ins6

2 papers

NM_001961.4

p.E694*

c.2080G>T

1 paper

NM_001961.4

p.G690V

c.2069G>T

1 paper

NM_001961.4

p.E753V

c.2258A>T