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

4 papers

NM_014681.6

p.D279A

c.836A>C

Surrounding Variants

1 paper

NM_014681.6

p.H282Y

c.844C>T

1 paper

NM_014681.6

p.L286P

c.857T>C

1 paper

NM_014681.6

p.N288N

c.864C>T

1 paper

NM_014681.6

p.D289N

c.865G>A

1 paper

NM_014681.6

p.L291F

c.871C>T

1 paper

NM_014681.6

p.Q265*

c.793C>T

1 paper

NM_014681.6

p.V294I

c.880G>A

1 paper

NM_014681.6

p.P300R

c.899C>G

2 papers

NM_014681.6

p.R302W

c.904C>T

1 paper

NM_014681.6

p.Y322_F323delFs

c.966_967delTT

1 paper

NM_014681.6

p.I338V

c.1012A>G

1 paper

NM_014681.6

p.I338S

c.1013T>G