Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R534H

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
29 papers
NM_001356.5
p.R534H
c.1601G>A
Surrounding Variants
1 paper
NM_001356.5
p.R534P
c.1601G>C
3 papers
NM_001356.5
p.R534S
c.1600C>A
7 papers
NM_001356.5
p.R534G
c.1600C>G
13 papers
NM_001356.5
p.R534C
c.1600C>T
2 papers
NM_001356.5
p.R534fs
c.1600_1601fs
2 papers
NM_001356.5
p.R534insFs
c.1600dupC
1 paper
NM_001356.5
p.V535I
c.1603G>A
1 paper
NM_001356.5
p.V535fs
c.1603_1604fs
3 papers
NM_001356.5
p.G533E
c.1598G>A
1 paper
NM_001356.5
p.G533V
c.1598G>T
1 paper
NM_001356.5
p.V535E
c.1604T>A
1 paper
NM_001356.5
p.V535G
c.1604T>G
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