Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.L338V

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.L338V
c.1012T>G
Surrounding Variants
1 paper
NM_001356.5
p.L338S
c.1013T>C
1 paper
NM_001356.5
p.D339N
c.1015G>A
1 paper
NM_001356.5
p.D339H
c.1015G>C
1 paper
NM_001356.5
p.G337_D339delFs
c.1010_1016del7
1 paper
NM_001356.5
p.I336T
c.1007T>C
1 paper
NM_001356.5
p.I336S
c.1007T>G
1 paper
NM_001356.5
p.I336ins1
c.1006_1007insGTG
3 papers
NM_001356.5
p.C341R
c.1021T>C
1 paper
NM_001356.5
p.C341G
c.1021T>G
1 paper
NM_001356.5
p.C341fs
c.1021_1022fs
1 paper
NM_001356.5
p.K335Fs
c.1003delinsGAFs
3 papers
NM_001356.5
p.C341Y
c.1022G>A
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