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

1–12 of 144 variants

4 papers

NM_014681.6

p.D279A

c.836A>C

4 papers

NM_014681.6

p.T556A

c.1666A>G

4 papers

NM_014681.6

p.R1000Q

c.2999G>A

3 papers

NM_014681.6

p.R949C

c.2845C>T

2 papers

NM_014681.6

p.M1I

c.3G>A

2 papers

NM_014681.6

p.R17W

c.49C>T

2 papers

NM_014681.6

p.R151H

c.452G>A

2 papers

NM_014681.6

p.R302W

c.904C>T

2 papers

NM_014681.6

p.D467Y

c.1399G>T

2 papers

NM_014681.6

p.S570delFs

c.1709delC

2 papers

NM_014681.6

p.S570*

c.1709C>A

2 papers

NM_014681.6

p.S570*

c.1709C>G