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.S136F

c.407C>T

Surrounding Variants

1 paper

NM_006773.4

p.A141T

c.421G>A

1 paper

NM_006773.4

p.E158G

c.473A>G

1 paper

NM_006773.4

p.E158E

c.474A>G

2 papers

NM_006773.4

p.C183Y

c.548G>A

1 paper

NM_006773.4

p.N201S

c.602A>G

1 paper

NM_006773.4

p.A222G

c.665C>G

1 paper

NM_006773.4

p.K113R

c.338A>G

1 paper

NM_006773.4

p.K109_K111del0

c.325_333del9

1 paper

NM_006773.4

p.E97K

c.289G>A

1 paper

NM_006773.4

p.G96A

c.287G>C

9 papers

NM_006773.4

p.T94S

c.281C>G

9 papers

NM_006773.4

p.T94S

c.280A>T