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

1 paper

NM_014681.6

p.A201T

c.601G>A

Surrounding Variants

1 paper

NM_014681.6

p.Q194R

c.581A>G

1 paper

NM_014681.6

p.Q194*

c.580C>T

1 paper

NM_014681.6

p.D186A

c.557A>C

1 paper

NM_014681.6

p.D186N

c.556G>A

1 paper

NM_014681.6

p.A184T

c.550G>A

1 paper

NM_014681.6

p.E177K

c.529G>A

1 paper

NM_014681.6

p.K176T

c.527A>C

1 paper

NM_014681.6

p.G168G

c.504G>C

1 paper

NM_014681.6

p.Y167N

c.499T>A

1 paper

NM_014681.6

p.Q156*

c.466C>T

2 papers

NM_014681.6

p.R151H

c.452G>A

1 paper

NM_014681.6

p.H124Y

c.370C>T