Varaico: Literature-Extracted Genetic Variants

Gene:DDX17
Variant:p.W122fs

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.W122fs
c.364_365fs
Surrounding Variants
3 papers
NM_006386.5
p.K121insFs
c.362dupA
2 papers
NM_006386.5
p.W122fs
c.364_365fs
1 paper
NM_006386.5
p.L124F
c.372G>T
1 paper
NM_006386.5
p.L124F
c.372G>C
2 papers
NM_006386.5
p.R118H
c.353G>A
1 paper
NM_006386.5
p.K132E
c.394A>G
1 paper
NM_006386.5
p.G111D
c.332G>A
1 paper
NM_006386.5
p.K109delFs
c.326delT
1 paper
NM_006386.5
p.V136A
c.407T>C
1 paper
NM_006386.5
p.E148A
c.443A>C
1 paper
NM_006386.5
p.D150delFs
c.449delT
1 paper
NM_006386.5
p.R154Q
c.461G>A
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