Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.T384S

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.T384S
c.1150A>T
Surrounding Variants
3 papers
NM_001356.5
p.T384P
c.1150A>C
3 papers
NM_001356.5
p.T384A
c.1150A>G
1 paper
NM_001356.5
p.F385_P386del2
c.1153_1157del6
2 papers
NM_001356.5
p.T384N
c.1151C>A
1 paper
NM_001356.5
p.T384S
c.1151C>G
2 papers
NM_001356.5
p.A383G
c.1148C>G
1 paper
NM_001356.5
p.A383V
c.1148C>T
4 papers
NM_001356.5
p.A383T
c.1147G>A
1 paper
NM_001356.5
p.A383P
c.1147G>C
1 paper
NM_001356.5
p.F385_P386del1
c.1154_1156delTTC
8 papers
NM_001356.5
p.S382R
c.1146T>A
1 paper
NM_001356.5
p.F385S
c.1154T>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."