Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R333T

DDX3X

580 papers

RefSeq Summary

The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase act...

Pfam Domains

DEADaa 204–392UCSCDEAD/DEAH box helicase
Helicase_Caa 426–536UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 3 X-linked

HGNC Alias Symbols

HLP2; DDX14; CAP-Rf

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001356.5
p.R333T
c.998G>C
Surrounding Variants
1 paper
NM_001356.5
p.R333S
c.999A>C
1 paper
NM_001356.5
p.R333G
c.997A>G
1 paper
NM_001356.5
p.R333S
c.999A>T
1 paper
NM_001356.5
p.E332V
c.995A>T
1 paper
NM_001356.5
p.K335Fs
c.1003delinsGAFs
2 papers
NM_001356.5
p.E332K
c.994G>A
2 papers
NM_001356.5
p.M331I
c.993G>A
2 papers
NM_001356.5
p.M331I
c.993G>C
2 papers
NM_001356.5
p.M331I
c.993G>T
1 paper
NM_001356.5
p.I336ins1
c.1006_1007insGTG
1 paper
NM_001356.5
p.M330I
c.990G>A
1 paper
NM_001356.5
p.M330I
c.990G>C
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