Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.G539Splc

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
2 papers
NM_001356.5
p.G539Splc
c.1616-1G>T
Surrounding Variants
1 paper
NM_001356.5
p.G539Splc
c.1616-2A>G
1 paper
NM_001356.5
p.G539fs
c.1615_1616fs
1 paper
NM_001356.5
p.L540M
c.1618C>A
1 paper
NM_001356.5
p.L540fs
c.1618_1619fs
1 paper
NM_001356.5
p.L540R
c.1619T>G
1 paper
NM_001356.5
p.A541E
c.1622C>A
6 papers
NM_001356.5
p.A541V
c.1622C>T
3 papers
NM_001356.5
p.S543*
c.1628C>A
1 paper
NM_001356.5
p.S543_F544insFs
c.1629_1630dupAT
4 papers
NM_001356.5
p.S543*
c.1628C>G
1 paper
NM_001356.5
p.S543L
c.1628C>T
1 paper
NM_001356.5
p.F544fs
c.1630_1631fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."