Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.M574I

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.M574I
c.1722G>C
Surrounding Variants
1 paper
NM_001356.5
p.M574I
c.1722G>A
1 paper
NM_001356.5
p.M574I
c.1722G>T
1 paper
NM_001356.5
p.A575D
c.1724C>A
2 papers
NM_001356.5
p.N573_A575del3
c.1717_1724del9
3 papers
NM_001356.5
p.Y576*
c.1728T>A
3 papers
NM_001356.5
p.Y576*
c.1728T>G
2 papers
NM_001356.5
p.E572Q
c.1714G>C
1 paper
NM_001356.5
p.E572*
c.1714G>T
1 paper
NM_001356.5
p.H578delFs
c.1732delC
1 paper
NM_001356.5
p.H579del1
c.1735_1737delCAC
1 paper
NM_001356.5
p.N573_E577del0
c.1717_1731del15
1 paper
NM_001356.5
p.L571I
c.1711T>A
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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."