Varaico: Literature-Extracted Genetic Variants

Gene:DDX17
Variant:p.P496S

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.P496S
c.1486C>T
Surrounding Variants
1 paper
NM_006386.5
p.Y502C
c.1505A>G
1 paper
NM_006386.5
p.H504R
c.1511A>G
1 paper
NM_006386.5
p.R505G
c.1513C>G
2 papers
NM_006386.5
p.V484M
c.1450G>A
1 paper
NM_006386.5
p.R508Q
c.1523G>A
1 paper
NM_006386.5
p.N514K
c.1542C>A
1 paper
NM_006386.5
p.K528insFs
c.1582_1583insG
1 paper
NM_006386.5
p.G559G
c.1677A>T
1 paper
NM_006386.5
p.G562Splc
c.1684+1G>A
1 paper
NM_006386.5
p.G563A
c.1688G>C
1 paper
NM_006386.5
p.R564H
c.1691G>A
1 paper
NM_006386.5
p.R596W
c.1786C>T
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