Varaico: Literature-Extracted Genetic Variants

Gene:DDX47
Variant:p.R62P

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.R62P
c.185G>C
Surrounding Variants
1 paper
NM_016355.4
p.R62C
c.184C>T
1 paper
NM_016355.4
p.A77T
c.229G>A
1 paper
NM_016355.4
p.L83P
c.248T>C
1 paper
NM_016355.4
p.P90S
c.268C>T
1 paper
NM_016355.4
p.L104M
c.310C>A
1 paper
NM_016355.4
p.Q107E
c.319C>G
1 paper
NM_016355.4
p.F112_A114ins1
c.334_342dup9
1 paper
NM_016355.4
p.S118F
c.353C>T
1 paper
NM_016355.4
p.I119F
c.355A>T
1 paper
NM_016355.4
p.Q135L
c.404A>T
1 paper
NM_016355.4
p.R166G
c.496A>G
1 paper
NM_016355.4
p.E175delFs
c.523delG
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