Varaico: Literature-Extracted Genetic Variants

EEF1D

70 papers

RefSeq Summary

This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide...

Pfam Domains

EF-1_beta_acidaa 159–186UCSCEukaryotic elongation factor 1 beta central acidic region

EF1_GNEaa 197–281UCSCEF-1 guanine nucleotide exchange domain

Gene Aliases

HGNC Name

eukaryotic translation elongation factor 1 delta

HGNC Alias Symbols

EF-1D; FLJ20897

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130053.5

p.H30Q

c.90C>G

Surrounding Variants

1 paper

NM_001130053.5

p.H30Q

c.90C>A

1 paper

NM_001130053.5

p.Y28C

c.83A>G

1 paper

NM_001130053.5

p.A36A

c.108C>T

1 paper

NM_001130053.5

p.A37S

c.109G>T

2 papers

NM_001130053.5

p.A23delFs

c.69delG

4 papers

NM_001130053.5

p.E24fs

c.70_71fs

1 paper

NM_001130053.5

p.S38F

c.113C>T

1 paper

NM_001130053.5

p.P47fs

c.139_140fs

1 paper

NM_001130053.5

p.D55D

c.165C>T

1 paper

NM_001130053.5

p.D59G

c.176A>G

1 paper

NM_001130053.5

p.G68V

c.203G>T

1 paper

NM_001130053.5

p.D73N

c.217G>A