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

2 papers

NM_020162.4

p.F239L

c.717C>G

Surrounding Variants

2 papers

NM_020162.4

p.F239L

c.717C>A

2 papers

NM_020162.4

p.F239L

c.715T>C

1 paper

NM_020162.4

p.Y242H

c.724T>C

1 paper

NM_020162.4

p.M234T

c.701T>C

1 paper

NM_020162.4

p.A274V

c.821C>T

1 paper

NM_020162.4

p.P224_K226delFs

c.672_678del7

1 paper

NM_020162.4

p.L225Q

c.674T>A

1 paper

NM_020162.4

p.P224fs

c.670_671fs

1 paper

NM_020162.4

p.G221R

c.661G>C

2 papers

NM_020162.4

p.G221R

c.661G>A

1 paper

NM_020162.4

p.Y153_D159del7

c.457_476del21

1 paper

NM_020162.4

p.D158E

c.474T>G