Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.E348Q

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
6 papers
NM_001356.5
p.E348Q
c.1042G>C
Surrounding Variants
7 papers
NM_001356.5
p.E348K
c.1042G>A
1 paper
NM_001356.5
p.E348A
c.1043A>C
1 paper
NM_001356.5
p.D347A
c.1040A>C
1 paper
NM_001356.5
p.E348D
c.1044A>C
2 papers
NM_001356.5
p.D347V
c.1040A>T
1 paper
NM_001356.5
p.E348D
c.1044A>T
1 paper
NM_001356.5
p.A349T
c.1045G>A
1 paper
NM_001356.5
p.D347Y
c.1039G>T
1 paper
NM_001356.5
p.L346F
c.1038A>C
3 papers
NM_001356.5
p.D350N
c.1048G>A
1 paper
NM_001356.5
p.D350H
c.1048G>C
4 papers
NM_001356.5
p.D350A
c.1049A>C
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