Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.K440N

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
3 papers
NM_001356.5
p.K440N
c.1320G>T
Surrounding Variants
3 papers
NM_001356.5
p.K440N
c.1320G>C
2 papers
NM_001356.5
p.D441delFs
c.1321delG
1 paper
NM_001356.5
p.D441N
c.1321G>A
1 paper
NM_001356.5
p.D441H
c.1321G>C
3 papers
NM_001356.5
p.D441fs
c.1321_1322fs
2 papers
NM_001356.5
p.S442*
c.1325C>A
2 papers
NM_001356.5
p.S442*
c.1325C>G
2 papers
NM_001356.5
p.G439Splc
c.1316-2A>G
1 paper
NM_001356.5
p.L443V
c.1327C>G
1 paper
NM_001356.5
p.G439Splc
c.1316-5G>A
1 paper
NM_001356.5
p.T444insFs
c.1330dupA
2 papers
NM_001356.5
p.T444delFs
c.1331delC
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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."