Varaico: Literature-Extracted Genetic Variants

DDX4

70 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 312–491UCSCDEAD/DEAH box helicase

Helicase_Caa 526–635UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 4

HGNC Alias Symbol

VASA

Papers

RefSeq ID

Protein change

DNA change

1–12 of 78 variants

2 papers

NM_024415.3

p.K129R

c.386A>G

2 papers

NM_024415.3

p.N225Splc

c.673+2T>C

2 papers

NM_024415.3

p.A511V

c.1532C>T

2 papers

NM_024415.3

p.R630H

c.1889G>A

1 paper

NM_024415.3

p.D3E

c.9T>A

1 paper

NM_024415.3

p.D3E

c.9T>G

1 paper

NM_024415.3

p.N11T

c.32A>C

1 paper

NM_024415.3

p.Y17S

c.50A>C

1 paper

NM_024415.3

p.P19T

c.55C>A

1 paper

NM_024415.3

p.P48R

c.143C>G

1 paper

NM_024415.3

p.D52_H53insFs

c.156_157insA

1 paper

NM_024415.3

p.F54L

c.160T>C