Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.D517_S520del4

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.D517_S520del4
c.1549_1559del12
Surrounding Variants
1 paper
NM_001356.5
p.N515S
c.1544A>G
2 papers
NM_001356.5
p.N515D
c.1543A>G
1 paper
NM_001356.5
p.I514M
c.1542C>G
1 paper
NM_001356.5
p.I514N
c.1541T>A
13 papers
NM_001356.5
p.I514T
c.1541T>C
1 paper
NM_001356.5
p.I514fs
c.1540_1541fs
1 paper
NM_001356.5
p.I514V
c.1540A>G
1 paper
NM_001356.5
p.P519delFs
c.1555delC
1 paper
NM_001356.5
p.P519fs
c.1555_1556fs
1 paper
NM_001356.5
p.I514delFs
c.1540delA
1 paper
NM_001356.5
p.P519Q
c.1556C>A
1 paper
NM_001356.5
p.P519L
c.1556C>T
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