Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.R519W

DDX41

376 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary ...

Pfam Domains

DEADaa 205–385UCSCDEAD/DEAH box helicase
Helicase_Caa 419–527UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 41

HGNC Alias Symbols

ABS; MGC8828

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_016222.4
p.R519W
c.1555C>T
Surrounding Variants
1 paper
NM_016222.4
p.H518N
c.1552C>A
4 papers
NM_016222.4
p.I520F
c.1558A>T
1 paper
NM_016222.4
p.V517G
c.1550T>G
4 papers
NM_016222.4
p.V517E
c.1550T>A
2 papers
NM_016222.4
p.G521S
c.1561G>A
1 paper
NM_016222.4
p.V517I
c.1549G>A
4 papers
NM_016222.4
p.G524R
c.1570G>C
4 papers
NM_016222.4
p.G524R
c.1570G>A
2 papers
NM_016222.4
p.R525S
c.1573C>A
142 papers
NM_016222.4
p.R525H
c.1574G>A
4 papers
NM_016222.4
p.S526L
c.1577C>T
1 paper
NM_016222.4
p.G527R
c.1579G>A
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."