Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X

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
1–12 of 1451 variants
36 papers
NM_001356.5
p.P568L
c.1703C>T
29 papers
NM_001356.5
p.R534H
c.1601G>A
26 papers
NM_001356.5
p.T532M
c.1595C>T
22 papers
NM_001356.5
p.R326H
c.977G>A
22 papers
NM_001356.5
p.R376C
c.1126C>T
19 papers
NM_001356.5
p.R326C
c.976C>T
19 papers
NM_001356.5
p.R475C
c.1423C>T
19 papers
NM_001356.5
p.R528C
c.1582C>T
18 papers
NM_001356.5
p.R351W
c.1051C>T
15 papers
NM_001356.5
p.R488H
c.1463G>A
14 papers
NM_001356.5
p.R292*
c.874C>T
14 papers
NM_001356.5
p.G302V
c.905G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."