Varaico: Literature-Extracted Genetic Variants

Gene:DDX4
Variant:p.D119E

DDX4

70 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary ...

Pfam Domains

DEADaa 312–491UCSCDEAD/DEAH box helicase
DEADaa 312–491UCSCDEAD/DEAH box helicase
Helicase_Caa 526–635UCSCHelicase conserved C-terminal domain
Helicase_Caa 526–635UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 4

HGNC Alias Symbol

VASA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024415.3
p.D119E
c.357T>G
Surrounding Variants
1 paper
NM_024415.3
p.D119E
c.357T>A
1 paper
NM_024415.3
p.D119N
c.355G>A
1 paper
NM_024415.3
p.P121S
c.361C>T
1 paper
NM_024415.3
p.R123W
c.367C>T
1 paper
NM_024415.3
p.D116delFs
c.347_348delAC
1 paper
NM_024415.3
p.N115delFs
c.343delA
2 papers
NM_024415.3
p.K129R
c.386A>G
1 paper
NM_024415.3
p.G108D
c.323G>A
1 paper
NM_024415.3
p.R76*
c.226C>T
1 paper
NM_024415.3
p.E72K
c.214G>A
1 paper
NM_024415.3
p.D69Y
c.205G>T
1 paper
NM_024415.3
p.F54L
c.162C>A
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