Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.E449D

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.E449D
c.1347G>T
Surrounding Variants
3 papers
NM_001356.5
p.E449D
c.1347G>C
3 papers
NM_001356.5
p.T450P
c.1348A>C
2 papers
NM_001356.5
p.E449G
c.1346A>G
2 papers
NM_001356.5
p.T450A
c.1348A>G
2 papers
NM_001356.5
p.T450S
c.1348A>T
2 papers
NM_001356.5
p.T450S
c.1349C>G
2 papers
NM_001356.5
p.T450I
c.1349C>T
2 papers
NM_001356.5
p.E449*
c.1345G>T
1 paper
NM_001356.5
p.K452delFs
c.1355delA
1 paper
NM_001356.5
p.K451E
c.1351A>G
5 papers
NM_001356.5
p.F447L
c.1341T>A
5 papers
NM_001356.5
p.F447L
c.1341T>G
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