Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.E366*

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
4 papers
NM_001356.5
p.E366*
c.1096G>T
Surrounding Variants
3 papers
NM_001356.5
p.E366K
c.1096G>A
2 papers
NM_001356.5
p.Q367insFs
c.1099dupC
2 papers
NM_001356.5
p.V365D
c.1094T>A
1 paper
NM_001356.5
p.I364T
c.1091T>C
1 paper
NM_001356.5
p.I364fs
c.1090_1091fs
1 paper
NM_001356.5
p.I364insFs
c.1090_1091insTT
1 paper
NM_001356.5
p.D368insFs
c.1102_1103insC
2 papers
NM_001356.5
p.D368fs
c.1102_1103fs
1 paper
NM_001356.5
p.D368fs
c.1102_1103fs
1 paper
NM_001356.5
p.D368_T369Fs
c.1102_1106delinsAFs
4 papers
NM_001356.5
p.D368V
c.1103A>T
1 paper
NM_001356.5
p.R363K
c.1088G>A
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