Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.I507L

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.I507L
c.1519A>C
Surrounding Variants
2 papers
NM_001356.5
p.I507V
c.1519A>G
4 papers
NM_001356.5
p.I507T
c.1520T>C
3 papers
NM_001356.5
p.D506G
c.1517A>G
2 papers
NM_001356.5
p.D506N
c.1516G>A
4 papers
NM_001356.5
p.D506Y
c.1516G>T
1 paper
NM_001356.5
p.S508L
c.1523C>T
4 papers
NM_001356.5
p.L505V
c.1513C>G
1 paper
NM_001356.5
p.N509S
c.1526A>G
4 papers
NM_001356.5
p.N509I
c.1526A>T
6 papers
NM_001356.5
p.G504E
c.1511G>A
3 papers
NM_001356.5
p.G504V
c.1511G>T
1 paper
NM_001356.5
p.G504*
c.1510G>T
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