Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.M509V

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
1 paper
NM_016222.4
p.M509V
c.1525A>G
Surrounding Variants
1 paper
NM_016222.4
p.M509I
c.1527G>T
1 paper
NM_016222.4
p.M509I
c.1527G>C
1 paper
NM_016222.4
p.M509I
c.1527G>A
5 papers
NM_016222.4
p.P510S
c.1528C>T
4 papers
NM_016222.4
p.E511*
c.1531G>T
1 paper
NM_016222.4
p.N506fs
c.1516_1517fs
1 paper
NM_016222.4
p.E511G
c.1532A>G
1 paper
NM_016222.4
p.N506S
c.1517A>G
1 paper
NM_016222.4
p.E512fs
c.1534_1535fs
1 paper
NM_016222.4
p.N506H
c.1516A>C
1 paper
NM_016222.4
p.I505M
c.1515C>G
1 paper
NM_016222.4
p.I505N
c.1514T>A
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