Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.S290S

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
1 paper
NM_001356.5
p.S290S
c.870A>G
Surrounding Variants
2 papers
NM_001356.5
p.S290*
c.869C>A
2 papers
NM_001356.5
p.S290*
c.869C>G
3 papers
NM_001356.5
p.S290L
c.869C>T
1 paper
NM_001356.5
p.S290insFs
c.869dupC
5 papers
NM_001356.5
p.S290fs
c.868_869fs
5 papers
NM_001356.5
p.Y291*
c.873C>A
2 papers
NM_001356.5
p.Y291_R292insFs
c.873_874ins4
5 papers
NM_001356.5
p.Y291*
c.873C>G
2 papers
NM_001356.5
p.R292fs
c.874_875fs
1 paper
NM_001356.5
p.R292G
c.874C>G
14 papers
NM_001356.5
p.R292*
c.874C>T
1 paper
NM_001356.5
p.R292fs
c.874_875fs
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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."