Varaico: Literature-Extracted Genetic Variants

Gene:DDX47
Variant:p.R197Q

DDX47

45 papers

RefSeq Summary

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number o...

Pfam Domains

DEADaa 48–215UCSCDEAD/DEAH box helicase
Helicase_Caa 249–358UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 47

HGNC Alias Symbols

DKFZp564O176; FLJ30012; HQ0256

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016355.4
p.R197Q
c.590G>A
Surrounding Variants
1 paper
NM_016355.4
p.R199W
c.595C>T
1 paper
NM_016355.4
p.V228I
c.682G>A
1 paper
NM_016355.4
p.K231E
c.691A>G
1 paper
NM_016355.4
p.P246L
c.737C>T
1 paper
NM_016355.4
p.R178Q
c.533G>A
1 paper
NM_016355.4
p.R178*
c.532C>T
1 paper
NM_016355.4
p.E175K
c.523G>A
1 paper
NM_016355.4
p.E175fs
c.523_524fs
1 paper
NM_016355.4
p.E175delFs
c.523delG
1 paper
NM_016355.4
p.R166G
c.496A>G
1 paper
NM_016355.4
p.Q135L
c.404A>T
1 paper
NM_016355.4
p.A280T
c.838G>A
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