Varaico: Literature-Extracted Genetic Variants

DDX24

63 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 216–516UCSCDEAD/DEAH box helicase

Helicase_Caa 574–682UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 24

HGNC Previous Names

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24; DEAD (Asp-Glu-Ala-Asp) box polypeptide 24; DEAD (Asp-Glu-Ala-Asp) box helicase 24

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020414.4

p.K154delFs

c.461delT

Surrounding Variants

1 paper

NM_020414.4

p.K153fs

c.457_458fs

1 paper

NM_020414.4

p.A127_A139del0

c.381_416del36

1 paper

NM_020414.4

p.P137P

c.411G>A

1 paper

NM_020414.4

p.V173fs

c.517_518fs

1 paper

NM_020414.4

p.K172_P174delFs

c.516_522del7

1 paper

NM_020414.4

p.A189P

c.565G>C

1 paper

NM_020414.4

p.E117*

c.349G>T

1 paper

NM_020414.4

p.E89del1

c.265_266delCTC

1 paper

NM_020414.4

p.E85E

c.255G>A

1 paper

NM_020414.4

p.K230E

c.688A>G

1 paper

NM_020414.4

p.K77Q

c.229A>C

1 paper

NM_020414.4

p.L231delFs

c.693delC