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

2 papers

NM_006773.4

p.E76del1

c.226_227delGAA

Surrounding Variants

1 paper

NM_006773.4

p.S74F

c.221C>T

1 paper

NM_006773.4

p.M73K

c.218T>A

1 paper

NM_006773.4

p.G72S

c.214G>A

1 paper

NM_006773.4

p.S86_P87insFs

c.258_259ins10

1 paper

NM_006773.4

p.P87insFs

c.260_261insG

1 paper

NM_006773.4

p.P87L

c.260C>T

1 paper

NM_006773.4

p.K89fs

c.265_266fs

9 papers

NM_006773.4

p.T94S

c.280A>T

9 papers

NM_006773.4

p.T94S

c.281C>G

1 paper

NM_006773.4

p.G96A

c.287G>C

1 paper

NM_006773.4

p.E97K

c.289G>A

1 paper

NM_006773.4

p.T47T

c.141A>T