Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.A499T

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
3 papers
NM_001356.5
p.A499T
c.1495G>A
Surrounding Variants
1 paper
NM_001356.5
p.T498K
c.1493C>A
1 paper
NM_001356.5
p.T498R
c.1493C>G
5 papers
NM_001356.5
p.T498I
c.1493C>T
6 papers
NM_001356.5
p.T498A
c.1492A>G
1 paper
NM_001356.5
p.A499_V500Splc
c.1497+1G>C
1 paper
NM_001356.5
p.T498del1
c.1492_1493delACA
1 paper
NM_001356.5
p.A499_V500Splc
c.1497+3A>G
6 papers
NM_001356.5
p.A497V
c.1490C>T
1 paper
NM_001356.5
p.A497_T498del1
c.1490_1492delCTA
1 paper
NM_001356.5
p.V496G
c.1487T>G
1 paper
NM_001356.5
p.V496insFs
c.1487_1488insG
7 papers
NM_001356.5
p.V496M
c.1486G>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."