Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.R479W

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
6 papers
NM_016222.4
p.R479W
c.1435C>T
Surrounding Variants
11 papers
NM_016222.4
p.R479Q
c.1436G>A
1 paper
NM_016222.4
p.R479fs
c.1435_1436fs
1 paper
NM_016222.4
p.K482R
c.1445A>G
1 paper
NM_016222.4
p.V485I
c.1453G>A
1 paper
NM_016222.4
p.R471L
c.1412G>T
1 paper
NM_016222.4
p.R471P
c.1412G>C
3 papers
NM_016222.4
p.R471Q
c.1412G>A
2 papers
NM_016222.4
p.R471W
c.1411C>T
6 papers
NM_016222.4
p.A488T
c.1462G>A
1 paper
NM_016222.4
p.A488V
c.1463C>T
1 paper
NM_016222.4
p.A488D
c.1463C>A
1 paper
NM_016222.4
p.E469K
c.1405G>A
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