Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.A467fs

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.A467fs
c.1399_1400fs
Surrounding Variants
3 papers
NM_001356.5
p.A467T
c.1399G>A
2 papers
NM_001356.5
p.A467S
c.1399G>T
1 paper
NM_001356.5
p.A467fs
c.1399_1400fs
1 paper
NM_001356.5
p.Y466*
c.1398C>A
1 paper
NM_001356.5
p.Y466*
c.1398C>G
1 paper
NM_001356.5
p.A467G
c.1400C>G
1 paper
NM_001356.5
p.A467V
c.1400C>T
1 paper
NM_001356.5
p.A467delFs
c.1399delG
1 paper
NM_001356.5
p.Y466D
c.1396T>G
3 papers
NM_001356.5
p.Y466fs
c.1396_1397fs
2 papers
NM_001356.5
p.C468Y
c.1403G>A
1 paper
NM_001356.5
p.T469del1
c.1405_1407delACC
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