Varaico: Literature-Extracted Genetic Variants

DDX18

71 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 203–374UCSCDEAD/DEAH box helicase

Helicase_Caa 411–519UCSCHelicase conserved C-terminal domain

CTE_SPB4aa 572–621UCSCATP-dependent rRNA helicase SPB4-like, C-terminal extension

Gene Aliases

HGNC Name

DEAD-box helicase 18

HGNC Alias Symbol

MrDb

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006773.4

p.G299A

c.896G>C

Surrounding Variants

1 paper

NM_006773.4

p.G301R

c.901G>A

1 paper

NM_006773.4

p.G301R

c.901G>C

1 paper

NM_006773.4

p.I305V

c.913A>G

1 paper

NM_006773.4

p.G288G

c.864C>T

1 paper

NM_006773.4

p.M265V

c.793A>G

1 paper

NM_006773.4

p.T260_R261insG

c.778_782ins3

1 paper

NM_006773.4

p.S258_P259ins10

c.772_776ins30

1 paper

NM_006773.4

p.R337H

c.1010G>A

1 paper

NM_006773.4

p.A222G

c.665C>G

1 paper

NM_006773.4

p.N201S

c.602A>G

2 papers

NM_006773.4

p.C183Y

c.548G>A

1 paper

NM_006773.4

p.E158E

c.474A>G