Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.Q565*

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
8 papers
NM_001356.5
p.Q565*
c.1693C>T
Surrounding Variants
2 papers
NM_001356.5
p.Q565E
c.1693C>G
1 paper
NM_001356.5
p.Q565L
c.1694A>T
1 paper
NM_001356.5
p.E566K
c.1696G>A
1 paper
NM_001356.5
p.E562G
c.1685A>G
1 paper
NM_001356.5
p.P568A
c.1702C>G
5 papers
NM_001356.5
p.P568S
c.1702C>T
36 papers
NM_001356.5
p.P568L
c.1703C>T
1 paper
NM_001356.5
p.V561_V567delFs
c.1683_1699del17
1 paper
NM_001356.5
p.V561I
c.1681G>A
1 paper
NM_001356.5
p.V561fs
c.1681_1682fs
2 papers
NM_001356.5
p.L560R
c.1679T>G
4 papers
NM_001356.5
p.W570*
c.1709G>A
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