Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.R219H

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
12 papers
NM_016222.4
p.R219H
c.656G>A
Surrounding Variants
1 paper
NM_016222.4
p.R219L
c.656G>T
1 paper
NM_016222.4
p.R219C
c.655C>T
1 paper
NM_016222.4
p.D220Y
c.658G>T
18 papers
NM_016222.4
p.G218D
c.653G>A
1 paper
NM_016222.4
p.S217fs
c.649_650fs
11 papers
NM_016222.4
p.S217P
c.649T>C
5 papers
NM_016222.4
p.S217fs
c.649_650fs
1 paper
NM_016222.4
p.M221fs
c.661_662fs
1 paper
NM_016222.4
p.L216insFs
c.647dupT
2 papers
NM_016222.4
p.L216V
c.646C>G
1 paper
NM_016222.4
p.L216fs
c.646_647fs
1 paper
NM_016222.4
p.I215T
c.644T>C
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