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

1–12 of 62 variants

9 papers

NM_006773.4

p.T94S

c.280A>T

9 papers

NM_006773.4

p.T94S

c.281C>G

4 papers

NM_006773.4

p.G41R

c.121G>A

4 papers

NM_006773.4

p.G41R

c.121G>C

2 papers

NM_006773.4

p.H3P

c.8A>C

2 papers

NM_006773.4

p.E76del1

c.226_227delGAA

2 papers

NM_006773.4

p.C183Y

c.548G>A

2 papers

NM_006773.4

p.V371I

c.1111G>A

1 paper

NM_006773.4

p.H3R

c.8A>G

1 paper

NM_006773.4

p.K19Q

c.55A>C

1 paper

NM_006773.4

p.S36L

c.107C>T

1 paper

NM_006773.4

p.Q39E

c.115C>G