Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.C317Y

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
2 papers
NM_001356.5
p.C317Y
c.950G>A
Surrounding Variants
2 papers
NM_001356.5
p.C317R
c.949T>C
1 paper
NM_001356.5
p.L319delFs
c.956delT
1 paper
NM_001356.5
p.G316E
c.947G>A
1 paper
NM_001356.5
p.G316V
c.947G>T
1 paper
NM_001356.5
p.L319fs
c.955_956fs
1 paper
NM_001356.5
p.R315H
c.944G>A
1 paper
NM_001356.5
p.R315S
c.943C>A
1 paper
NM_001356.5
p.R315C
c.943C>T
1 paper
NM_001356.5
p.V321del1
c.961_962delGTA
1 paper
NM_001356.5
p.E314K
c.940G>A
1 paper
NM_001356.5
p.V321I
c.961G>A
2 papers
NM_001356.5
p.V321L
c.961G>C
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