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.P823T

c.2467C>A

Surrounding Variants

1 paper

NM_020414.4

p.P816L

c.2447C>T

1 paper

NM_020414.4

p.K840del1

c.2518_2519delCTT

1 paper

NM_020414.4

p.K842*

c.2524A>T

1 paper

NM_020414.4

p.R793H

c.2378G>A

1 paper

NM_020414.4

p.T856A

c.2566A>G

1 paper

NM_020414.4

p.*860Y

c.2580A>T

1 paper

NM_020414.4

p.*860Y

c.2580A>C

1 paper

NM_020414.4

p.Q784K

c.2350C>A

1 paper

NM_020414.4

p.V725_K726ins2

c.2175_2176ins6

1 paper

NM_020414.4

p.L714V

c.2140C>G

1 paper

NM_020414.4

p.R677Q

c.2030G>A

4 papers

NM_020414.4

p.V664G

c.1991T>G