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.V593V

c.1779C>G

Surrounding Variants

2 papers

NM_001130053.5

p.W594R

c.1780T>C

1 paper

NM_001130053.5

p.W594R

c.1780T>A

1 paper

NM_001130053.5

p.W594L

c.1781G>T

1 paper

NM_001130053.5

p.P601S

c.1801C>T

3 papers

NM_001130053.5

p.H635_V636Splc

c.1905+1G>A

1 paper

NM_001130053.5

p.A642T

c.1924G>A

1 paper

NM_001130053.5

p.K646R

c.1937A>G

1 paper

NM_001130053.5

p.S563_I564del2

c.1687_1691del6

1 paper

NM_001130053.5

p.A549V

c.1646C>T

1 paper

NM_001130053.5

p.E542K

c.1624G>A

1 paper

NM_001130053.5

p.R541Q

c.1622G>A

1 paper

NM_001130053.5

p.A537A

c.1611G>A