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.R487K

c.1460G>A

Surrounding Variants

1 paper

NM_006773.4

p.S476L

c.1427C>T

1 paper

NM_006773.4

p.C435F

c.1304G>T

1 paper

NM_006773.4

p.L428R

c.1283T>G

1 paper

NM_006773.4

p.A517S

c.1549G>T

1 paper

NM_006773.4

p.A526S

c.1576G>T

1 paper

NM_006773.4

p.R539H

c.1616G>A

1 paper

NM_006773.4

p.N394K

c.1182T>A

1 paper

NM_006773.4

p.N394K

c.1182T>G

1 paper

NM_006773.4

p.D391N

c.1171G>A

1 paper

NM_006773.4

p.E382D

c.1146G>C

1 paper

NM_006773.4

p.E382D

c.1146G>T

2 papers

NM_006773.4

p.V371I

c.1111G>A