Varaico: Literature-Extracted Genetic Variants

Gene:DDX17
Variant:p.R564H

DDX17

156 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 195–366UCSCDEAD/DEAH box helicase
Helicase_Caa 401–513UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 17

HGNC Alias Symbol

P72

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006386.5
p.R564H
c.1691G>A
Surrounding Variants
1 paper
NM_006386.5
p.G563A
c.1688G>C
1 paper
NM_006386.5
p.R596W
c.1786C>T
1 paper
NM_006386.5
p.Y602C
c.1805A>G
1 paper
NM_006386.5
p.D609N
c.1825G>A
1 paper
NM_006386.5
p.G618C
c.1852G>T
1 paper
NM_006386.5
p.G620*
c.1858G>T
1 paper
NM_006386.5
p.G631S
c.1891G>A
1 paper
NM_006386.5
p.G711V
c.2132G>T
1 paper
NM_006386.5
p.Q716_Y717delFs
c.2146_2149del4
1 paper
NM_006386.5
p.P725fs
c.2173_2174fs
1 paper
NM_006386.5
p.G562Splc
c.1684+1G>A
1 paper
NM_006386.5
p.G559G
c.1677A>T
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