Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.V510A

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.V510A
c.1529T>C
Surrounding Variants
1 paper
NM_001356.5
p.V510G
c.1529T>G
1 paper
NM_001356.5
p.K511_H512insCTT
c.1531_1535ins9
1 paper
NM_001356.5
p.N509S
c.1526A>G
4 papers
NM_001356.5
p.N509I
c.1526A>T
1 paper
NM_001356.5
p.H512del1
c.1534_1535delCAT
2 papers
NM_001356.5
p.H512Y
c.1534C>T
8 papers
NM_001356.5
p.H512delFs
c.1535_1536delAT
6 papers
NM_001356.5
p.H512fs
c.1534_1535fs
1 paper
NM_001356.5
p.H512R
c.1535A>G
1 paper
NM_001356.5
p.S508L
c.1523C>T
1 paper
NM_001356.5
p.V513L
c.1537G>C
4 papers
NM_001356.5
p.I507T
c.1520T>C
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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."