Varaico: Literature-Extracted Genetic Variants

Gene:DDX17
Variant:p.P44A

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.P44A
c.130C>G
Surrounding Variants
1 paper
NM_006386.5
p.A43T
c.127G>A
1 paper
NM_006386.5
p.A42D
c.125C>A
1 paper
NM_006386.5
p.P40L
c.119C>T
1 paper
NM_006386.5
p.A39insFs
c.117dupG
1 paper
NM_006386.5
p.S52delFs
c.156delC
1 paper
NM_006386.5
p.S33P
c.97T>C
1 paper
NM_006386.5
p.G29A
c.86G>C
1 paper
NM_006386.5
p.L62delFs
c.185_186delGA
1 paper
NM_006386.5
p.V24delFs
c.71delA
1 paper
NM_006386.5
p.T23S
c.67A>T
1 paper
NM_006386.5
p.A69D
c.206C>A
1 paper
NM_006386.5
p.P72S
c.214C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."