Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.Q477H

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
2 papers
NM_001356.5
p.Q477H
c.1431G>T
Surrounding Variants
2 papers
NM_001356.5
p.Q477H
c.1431G>C
1 paper
NM_001356.5
p.R478G
c.1432A>G
2 papers
NM_001356.5
p.Q477E
c.1429C>G
4 papers
NM_001356.5
p.Q477*
c.1429C>T
1 paper
NM_001356.5
p.D479_R480delFs
c.1437_1438delTA
1 paper
NM_001356.5
p.D479fs
c.1435_1436fs
2 papers
NM_001356.5
p.D479_R480delins
c.1436_1439delinsTCTC
1 paper
NM_001356.5
p.S476T
c.1426T>A
1 paper
NM_001356.5
p.R480insFs
c.1438dupA
11 papers
NM_001356.5
p.R480G
c.1438A>G
1 paper
NM_001356.5
p.R480fs
c.1438_1439fs
7 papers
NM_001356.5
p.R475H
c.1424G>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."