Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.F487L

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
5 papers
NM_001356.5
p.F487L
c.1459T>C
Surrounding Variants
1 paper
NM_001356.5
p.F487V
c.1459T>G
2 papers
NM_001356.5
p.R488delFs
c.1462delC
5 papers
NM_001356.5
p.F487L
c.1461C>A
5 papers
NM_001356.5
p.F487L
c.1461C>G
2 papers
NM_001356.5
p.R488S
c.1462C>A
1 paper
NM_001356.5
p.R488fs
c.1462_1463fs
9 papers
NM_001356.5
p.R488C
c.1462C>T
3 papers
NM_001356.5
p.R488fs
c.1462_1463fs
15 papers
NM_001356.5
p.R488H
c.1463G>A
1 paper
NM_001356.5
p.R488L
c.1463G>T
2 papers
NM_001356.5
p.H485P
c.1454A>C
1 paper
NM_001356.5
p.S489P
c.1465T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."