Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R326H

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
22 papers
NM_001356.5
p.R326H
c.977G>A
Surrounding Variants
2 papers
NM_001356.5
p.R326L
c.977G>T
19 papers
NM_001356.5
p.R326C
c.976C>T
1 paper
NM_001356.5
p.L327V
c.979C>G
14 papers
NM_001356.5
p.G325E
c.974G>A
1 paper
NM_001356.5
p.G325V
c.974G>T
3 papers
NM_001356.5
p.G325R
c.973G>A
3 papers
NM_001356.5
p.G325R
c.973G>C
4 papers
NM_001356.5
p.P324Q
c.971C>A
3 papers
NM_001356.5
p.P324R
c.971C>G
1 paper
NM_001356.5
p.D329N
c.985G>A
1 paper
NM_001356.5
p.D329H
c.985G>C
1 paper
NM_001356.5
p.D329Y
c.985G>T
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