Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.A539fs

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.A539fs
c.1615_1616fs
Surrounding Variants
1 paper
NM_016222.4
p.A539V
c.1616C>T
1 paper
NM_016222.4
p.A539delFs
c.1615delC
1 paper
NM_016222.4
p.D541Splc
c.1621+1G>A
1 paper
NM_016222.4
p.D541Splc
c.1621+5G>T
2 papers
NM_016222.4
p.D541Splc
c.1621+5G>A
1 paper
NM_016222.4
p.F535fs
c.1603_1604fs
1 paper
NM_016222.4
p.G530A
c.1589G>C
41 papers
NM_016222.4
p.G530D
c.1589G>A
5 papers
NM_016222.4
p.G530C
c.1588G>T
1 paper
NM_016222.4
p.G530R
c.1588G>C
13 papers
NM_016222.4
p.G530S
c.1588G>A
10 papers
NM_016222.4
p.T529delFs
c.1586_1587delTG
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