Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.Q309K

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.Q309K
c.925C>A
Surrounding Variants
1 paper
NM_001356.5
p.Q309*
c.925C>T
1 paper
NM_001356.5
p.Q309R
c.926A>G
1 paper
NM_001356.5
p.Q308*
c.922C>T
1 paper
NM_001356.5
p.I310S
c.929T>G
1 paper
NM_001356.5
p.R311G
c.931C>G
10 papers
NM_001356.5
p.R311*
c.931C>T
2 papers
NM_001356.5
p.R311Q
c.932G>A
1 paper
NM_001356.5
p.I306N
c.917T>A
1 paper
NM_001356.5
p.I306T
c.917T>C
1 paper
NM_001356.5
p.I306L
c.916A>C
1 paper
NM_001356.5
p.I306fs
c.916_917fs
1 paper
NM_001356.5
p.D305N
c.913G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."