Varaico: Literature-Extracted Genetic Variants

DHX33

43 papers

RefSeq Summary

This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a n...

Pfam Domains

DEADaa 77–239UCSCDEAD/DEAH box helicase

Helicase_Caa 271–410UCSCHelicase conserved C-terminal domain

WHD_HA2aa 471–502UCSCHelicase associated domain (HA2), winged-helix

HA2_Caa 503–562UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 620–697UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

Gene Aliases

HGNC Name

DEAH-box helicase 33

HGNC Previous Symbol

DDX33

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020162.4

p.Q51_P53delFs

c.153_159del7

Surrounding Variants

1 paper

NM_020162.4

p.G44R

c.130G>C

1 paper

NM_020162.4

p.G44R

c.130G>A

1 paper

NM_020162.4

p.Q86delFs

c.256delG

1 paper

NM_020162.4

p.R88*

c.262C>T

1 paper

NM_020162.4

p.P19L

c.56C>T

1 paper

NM_020162.4

p.D91E

c.273C>G

1 paper

NM_020162.4

p.D91E

c.273C>A

1 paper

NM_020162.4

p.E4D

c.12G>C

1 paper

NM_020162.4

p.K103N

c.309G>T

1 paper

NM_020162.4

p.K103N

c.309G>C

1 paper

NM_020162.4

p.Q106E

c.316C>G

1 paper

NM_020162.4

p.P127R

c.380C>G