Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.D354A

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.D354A
c.1061A>C
Surrounding Variants
4 papers
NM_001356.5
p.D354G
c.1061A>G
13 papers
NM_001356.5
p.D354V
c.1061A>T
3 papers
NM_001356.5
p.D354H
c.1060G>C
1 paper
NM_001356.5
p.D354fs
c.1060_1061fs
2 papers
NM_001356.5
p.D354Y
c.1060G>T
3 papers
NM_001356.5
p.M355insFs
c.1063dupA
1 paper
NM_001356.5
p.M355fs
c.1063_1064fs
2 papers
NM_001356.5
p.M355V
c.1063A>G
1 paper
NM_001356.5
p.M355fs
c.1063_1064fs
6 papers
NM_001356.5
p.L353F
c.1059G>C
6 papers
NM_001356.5
p.L353F
c.1059G>T
1 paper
NM_001356.5
p.L353S
c.1058T>C
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."