Varaico: Literature-Extracted Genetic Variants

DHX34

90 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 166–319UCSCDEAD/DEAH box helicase

Helicase_Caa 365–496UCSCHelicase conserved C-terminal domain

WHD_HA2aa 557–585UCSCHelicase associated domain (HA2), winged-helix

HA2_Caa 586–671UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 800–911UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

zf-C2H2_DHX34aa 1118–1142UCSCDHX34-like, C2H2-type zinc finger

Gene Aliases

HGNC Name

DExH-box helicase 34

HGNC Previous Symbol

DDX34

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_014681.6

p.R949C

c.2845C>T

Surrounding Variants

2 papers

NM_014681.6

p.L946F

c.2836C>T

1 paper

NM_014681.6

p.R956Q

c.2867G>A

1 paper

NM_014681.6

p.L966_E967del2

c.2896_2900del6

1 paper

NM_014681.6

p.L966_E967del1

c.2898_2900delGGA

1 paper

NM_014681.6

p.E970_D972del0

c.2910_2915del6

1 paper

NM_014681.6

p.E968V

c.2903A>T

1 paper

NM_014681.6

p.G924C

c.2770G>T

1 paper

NM_014681.6

p.A922A

c.2766C>T

1 paper

NM_014681.6

p.A981V

c.2942C>T

1 paper

NM_014681.6

p.L906F

c.2716C>T

1 paper

NM_014681.6

p.I995delFs

c.2983delA

1 paper

NM_014681.6

p.I995fs

c.2983_2984fs