Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R528H

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
12 papers
NM_001356.5
p.R528H
c.1583G>A
Surrounding Variants
1 paper
NM_001356.5
p.R528S
c.1582C>A
19 papers
NM_001356.5
p.R528C
c.1582C>T
2 papers
NM_001356.5
p.I529L
c.1585A>C
1 paper
NM_001356.5
p.I529insFs
c.1586_1587ins8
1 paper
NM_001356.5
p.G530del1
c.1588_1589delGGT
1 paper
NM_001356.5
p.H527N
c.1579C>A
1 paper
NM_001356.5
p.H527fs
c.1579_1580fs
2 papers
NM_001356.5
p.H527Y
c.1579C>T
1 paper
NM_001356.5
p.H527fs
c.1579_1580fs
2 papers
NM_001356.5
p.H527delFs
c.1579delC
1 paper
NM_001356.5
p.G530S
c.1588G>A
1 paper
NM_001356.5
p.G530delFs
c.1589_1590delGT
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