Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.S456fs

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.S456fs
c.1366_1367fs
Surrounding Variants
1 paper
NM_001356.5
p.S456delFs
c.1367delC
1 paper
NM_001356.5
p.S456fs
c.1366_1367fs
1 paper
NM_001356.5
p.S456F
c.1367C>T
1 paper
NM_001356.5
p.L457M
c.1369C>A
1 paper
NM_001356.5
p.L457_L461del0
c.1371_1382del12
1 paper
NM_001356.5
p.D455Y
c.1363G>T
1 paper
NM_001356.5
p.D455_H463del0
c.1363_1389del27
1 paper
NM_001356.5
p.L457P
c.1370T>C
1 paper
NM_001356.5
p.A454V
c.1361C>T
1 paper
NM_001356.5
p.L457_L461delins
c.1371_1382delinsCTC
1 paper
NM_001356.5
p.E458Q
c.1372G>C
1 paper
NM_001356.5
p.E458*
c.1372G>T
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