Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.R323S

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.R323S
c.967C>A
Surrounding Variants
7 papers
NM_016222.4
p.R323C
c.967C>T
8 papers
NM_016222.4
p.R323H
c.968G>A
1 paper
NM_016222.4
p.P321P
c.963G>A
42 papers
NM_016222.4
p.P321L
c.962C>T
NM_001321732.2
p.P195L
c.584C>T
1 paper
NM_016222.4
p.T320fs
c.958_959fs
6 papers
NM_016222.4
p.T320I
c.959C>T
2 papers
NM_016222.4
p.T320S
c.959C>G
2 papers
NM_016222.4
p.T320S
c.958A>T
1 paper
NM_016222.4
p.V318G
c.953T>G
5 papers
NM_016222.4
p.V318L
c.952G>T
5 papers
NM_016222.4
p.V318L
c.952G>C
1 paper
NM_016222.4
p.V318M
c.952G>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."