Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.L445*

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
2 papers
NM_001356.5
p.L445*
c.1334T>A
Surrounding Variants
2 papers
NM_001356.5
p.L445*
c.1334T>G
1 paper
NM_001356.5
p.L445Fs
c.1335delinsAAFs
1 paper
NM_001356.5
p.L445_V446delins
c.1335_1336delinsGA
1 paper
NM_001356.5
p.L445fs
c.1333_1334fs
2 papers
NM_001356.5
p.V446M
c.1336G>A
1 paper
NM_001356.5
p.T444_L445delFs
c.1332_1333delCT
2 papers
NM_001356.5
p.T444delFs
c.1331delC
1 paper
NM_001356.5
p.T444fs
c.1330_1331fs
1 paper
NM_001356.5
p.T444insFs
c.1330dupA
5 papers
NM_001356.5
p.F447L
c.1339T>C
1 paper
NM_001356.5
p.L443V
c.1327C>G
5 papers
NM_001356.5
p.F447L
c.1341T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."