Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.T553_K554delFs

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.T553_K554delFs
c.1658_1662del5
Surrounding Variants
2 papers
NM_001356.5
p.T553fs
c.1657_1658fs
1 paper
NM_001356.5
p.T553_K554delFs
c.1658_1661del4
2 papers
NM_001356.5
p.N551H
c.1651A>C
1 paper
NM_001356.5
p.D555N
c.1663G>A
1 paper
NM_001356.5
p.D555E
c.1665T>A
1 paper
NM_001356.5
p.D555E
c.1665T>G
1 paper
NM_001356.5
p.L556M
c.1666T>A
2 papers
NM_001356.5
p.L556V
c.1666T>G
1 paper
NM_001356.5
p.N549K
c.1647C>A
1 paper
NM_001356.5
p.N549K
c.1647C>G
1 paper
NM_001356.5
p.L556*
c.1667T>A
5 papers
NM_001356.5
p.L556S
c.1667T>C
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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."