Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.I471F

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.I471F
c.1411A>T
Surrounding Variants
1 paper
NM_001356.5
p.S470N
c.1409G>A
1 paper
NM_001356.5
p.H472N
c.1414C>A
2 papers
NM_001356.5
p.H472Y
c.1414C>T
4 papers
NM_001356.5
p.H472R
c.1415A>G
1 paper
NM_001356.5
p.T469A
c.1405A>G
3 papers
NM_001356.5
p.G473R
c.1417G>A
2 papers
NM_001356.5
p.G473R
c.1417G>C
1 paper
NM_001356.5
p.G473E
c.1418G>A
3 papers
NM_001356.5
p.G473V
c.1418G>T
1 paper
NM_001356.5
p.T469del1
c.1405_1407delACC
2 papers
NM_001356.5
p.C468Y
c.1403G>A
1 paper
NM_001356.5
p.D474N
c.1420G>A
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