Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.G230R

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.G230R
c.688G>C
Surrounding Variants
1 paper
NM_016222.4
p.G230A
c.689G>C
3 papers
NM_016222.4
p.G230D
c.689G>A
6 papers
NM_016222.4
p.G228C
c.682G>T
7 papers
NM_016222.4
p.T232A
c.694A>G
4 papers
NM_016222.4
p.T232_L233insAA
c.694_698ins6
1 paper
NM_016222.4
p.T227T
c.681G>A
21 papers
NM_016222.4
p.T227M
c.680C>T
3 papers
NM_016222.4
p.T227A
c.679A>G
1 paper
NM_016222.4
p.V234insFs
c.701_702ins4
3 papers
NM_016222.4
p.V234fs
c.700_701fs
7 papers
NM_016222.4
p.A225V
c.674C>T
14 papers
NM_016222.4
p.A225D
c.674C>A
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