Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.I364T

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.I364T
c.1091T>C
Surrounding Variants
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.R363K
c.1088G>A
2 papers
NM_001356.5
p.V365D
c.1094T>A
1 paper
NM_001356.5
p.R363*
c.1087A>T
3 papers
NM_001356.5
p.E366K
c.1096G>A
4 papers
NM_001356.5
p.E366*
c.1096G>T
1 paper
NM_001356.5
p.R362H
c.1085G>A
2 papers
NM_001356.5
p.Q367insFs
c.1099dupC
1 paper
NM_001356.5
p.R362S
c.1084C>A
3 papers
NM_001356.5
p.R362G
c.1084C>G
10 papers
NM_001356.5
p.R362C
c.1084C>T
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