Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.Y291*

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
5 papers
NM_001356.5
p.Y291*
c.873C>A
Surrounding Variants
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
3 papers
NM_001356.5
p.R292L
c.875G>T
1 paper
NM_001356.5
p.S290S
c.870A>G
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.S293_C298delFs
c.879_894del16
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