Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.P297fs

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.P297fs
c.889_890fs
Surrounding Variants
1 paper
NM_001356.5
p.P297T
c.889C>A
1 paper
NM_001356.5
p.P297fs
c.889_890fs
1 paper
NM_001356.5
p.P297L
c.890C>T
4 papers
NM_001356.5
p.R296P
c.887G>C
2 papers
NM_001356.5
p.R296C
c.886C>T
1 paper
NM_001356.5
p.C298insFs
c.893dupG
2 papers
NM_001356.5
p.C298*
c.894C>A
1 paper
NM_001356.5
p.V299M
c.895G>A
4 papers
NM_001356.5
p.R294T
c.881G>C
1 paper
NM_001356.5
p.R294R
c.880A>C
1 paper
NM_001356.5
p.R294fs
c.880_881fs
5 papers
NM_001356.5
p.V300F
c.898G>T
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