Varaico: Literature-Extracted Genetic Variants

Gene:DDX17

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
1–12 of 133 variants
3 papers
NM_006386.5
p.P72R
c.215C>G
3 papers
NM_006386.5
p.K121insFs
c.362dupA
2 papers
NM_006386.5
p.R118H
c.353G>A
2 papers
NM_006386.5
p.W122fs
c.364_365fs
2 papers
NM_006386.5
p.V484M
c.1450G>A
1 paper
NM_006386.5
p.T3A
c.7A>G
1 paper
NM_006386.5
p.L10P
c.29T>C
1 paper
NM_006386.5
p.P15S
c.43C>T
1 paper
NM_006386.5
p.T23S
c.67A>T
1 paper
NM_006386.5
p.V24delFs
c.71delA
1 paper
NM_006386.5
p.G29A
c.86G>C
1 paper
NM_006386.5
p.S33P
c.97T>C
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