Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.E388K

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.E388K
c.1162G>A
Surrounding Variants
1 paper
NM_001356.5
p.E388Q
c.1162G>C
1 paper
NM_001356.5
p.E388A
c.1163A>C
2 papers
NM_001356.5
p.E388_I389del2
c.1162_1166del6
1 paper
NM_001356.5
p.I389V
c.1165A>G
2 papers
NM_001356.5
p.K387*
c.1159A>T
1 paper
NM_001356.5
p.P386R
c.1157C>G
2 papers
NM_001356.5
p.P386L
c.1157C>T
4 papers
NM_001356.5
p.P386S
c.1156C>T
2 papers
NM_001356.5
p.Q390*
c.1168C>T
1 paper
NM_001356.5
p.P386fs
c.1156_1157fs
1 paper
NM_001356.5
p.F385S
c.1154T>C
1 paper
NM_001356.5
p.F385_P386del1
c.1154_1156delTTC
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."