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

2 papers

NM_001130053.5

p.S123T

c.368G>C

Surrounding Variants

1 paper

NM_001130053.5

p.A99A

c.297G>A

1 paper

NM_001130053.5

p.C156Y

c.467G>A

1 paper

NM_001130053.5

p.V159A

c.476T>C

1 paper

NM_001130053.5

p.K86I

c.257A>T

1 paper

NM_001130053.5

p.T160T

c.480C>T

1 paper

NM_001130053.5

p.N166D

c.496A>G

1 paper

NM_001130053.5

p.D73N

c.217G>A

1 paper

NM_001130053.5

p.R175W

c.523C>T

1 paper

NM_001130053.5

p.R175Q

c.524G>A

1 paper

NM_001130053.5

p.A176G

c.527C>G

1 paper

NM_001130053.5

p.G68V

c.203G>T

1 paper

NM_001130053.5

p.D59G

c.176A>G