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.V365L

c.1093G>T

Surrounding Variants

1 paper

NM_014681.6

p.V365L

c.1093G>C

1 paper

NM_014681.6

p.I369V

c.1105A>G

1 paper

NM_014681.6

p.D370H

c.1108G>C

1 paper

NM_014681.6

p.D380insFs

c.1138dupG

1 paper

NM_014681.6

p.P344L

c.1031C>T

1 paper

NM_014681.6

p.V394M

c.1180G>A

1 paper

NM_014681.6

p.Q399E

c.1195C>G

1 paper

NM_014681.6

p.Y401C

c.1202A>G

1 paper

NM_014681.6

p.V425G

c.1274T>G

1 paper

NM_014681.6

p.N441S

c.1322A>G

1 paper

NM_014681.6

p.E444D

c.1332G>C

1 paper

NM_014681.6

p.E444D

c.1332G>T