Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.V299M

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.V299M
c.895G>A
Surrounding Variants
2 papers
NM_001356.5
p.C298*
c.894C>A
5 papers
NM_001356.5
p.V300F
c.898G>T
1 paper
NM_001356.5
p.C298insFs
c.893dupG
1 paper
NM_001356.5
p.P297L
c.890C>T
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.P297fs
c.889_890fs
1 paper
NM_001356.5
p.Y301C
c.902A>G
1 paper
NM_001356.5
p.Y301F
c.902A>T
4 papers
NM_001356.5
p.R296P
c.887G>C
2 papers
NM_001356.5
p.R296C
c.886C>T
4 papers
NM_001193417.3
p.G286S
c.856G>A
NM_001356.5
p.G302S
c.904G>A
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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."