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.P214P

c.642A>T

Surrounding Variants

1 paper

NM_001130053.5

p.P212L

c.635C>T

1 paper

NM_001130053.5

p.H210Q

c.630C>G

1 paper

NM_001130053.5

p.H210Q

c.630C>A

1 paper

NM_001130053.5

p.A204A

c.612C>T

2 papers

NM_001130053.5

p.Q226*

c.676C>T

1 paper

NM_001130053.5

p.A227T

c.679G>A

1 paper

NM_001130053.5

p.R230W

c.688C>T

1 paper

NM_001130053.5

p.R238L

c.713G>T

1 paper

NM_001130053.5

p.P188delFs

c.563_564delGG

1 paper

NM_001130053.5

p.P188fs

c.562_563fs

1 paper

NM_001130053.5

p.P188R

c.563C>G

1 paper

NM_001130053.5

p.A176G

c.527C>G