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

2 papers

NM_014681.6

p.S570delFs

c.1709delC

Surrounding Variants

2 papers

NM_014681.6

p.S570*

c.1709C>A

2 papers

NM_014681.6

p.S570*

c.1709C>G

1 paper

NM_014681.6

p.R562W

c.1684C>T

1 paper

NM_014681.6

p.A581G

c.1742C>G

4 papers

NM_014681.6

p.T556A

c.1666A>G

1 paper

NM_014681.6

p.V587I

c.1759G>A

1 paper

NM_014681.6

p.G590R

c.1768G>A

1 paper

NM_014681.6

p.G590R

c.1768G>C

1 paper

NM_014681.6

p.R541*

c.1621C>T

1 paper

NM_014681.6

p.P518S

c.1552C>T

1 paper

NM_014681.6

p.V517F

c.1549G>T

1 paper

NM_014681.6

p.Y515C

c.1544A>G