Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.L353M

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.L353M
c.1057T>A
Surrounding Variants
1 paper
NM_001356.5
p.M352I
c.1056G>A
1 paper
NM_001356.5
p.M352I
c.1056G>C
1 paper
NM_001356.5
p.M352I
c.1056G>T
1 paper
NM_001356.5
p.L353_M355delFs
c.1058_1064del7
1 paper
NM_001356.5
p.L353S
c.1058T>C
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.M352_D354del0
c.1056_1061del6
1 paper
NM_001356.5
p.M352L
c.1054A>C
1 paper
NM_001356.5
p.M352L
c.1054A>T
3 papers
NM_001356.5
p.D354H
c.1060G>C
1 paper
NM_001356.5
p.D354fs
c.1060_1061fs
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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."