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

1–12 of 84 variants

4 papers

NM_001130053.5

p.E24fs

c.70_71fs

4 papers

NM_001130053.5

p.W316*

c.947G>A

4 papers

NM_001130053.5

p.W316*

c.948G>A

3 papers

NM_001130053.5

p.H635_V636Splc

c.1905+1G>A

2 papers

NM_001130053.5

p.A23delFs

c.69delG

2 papers

NM_001130053.5

p.S123T

c.368G>C

2 papers

NM_001130053.5

p.Q226*

c.676C>T

2 papers

NM_001130053.5

p.A325T

c.973G>A

2 papers

NM_001130053.5

p.A334S

c.1000G>T

2 papers

NM_001130053.5

p.R353Q

c.1058G>A

2 papers

NM_001130053.5

p.W594R

c.1780T>C

1 paper

NM_001130053.5

p.Y28C

c.83A>G