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.D467Y

c.1399G>T

Surrounding Variants

1 paper

NM_014681.6

p.P468L

c.1403C>T

1 paper

NM_014681.6

p.Q469*

c.1405C>T

1 paper

NM_014681.6

p.E477G

c.1430A>G

1 paper

NM_014681.6

p.F478L

c.1432T>C

1 paper

NM_014681.6

p.F478L

c.1434C>A

1 paper

NM_014681.6

p.F478L

c.1434C>G

1 paper

NM_014681.6

p.E506K

c.1516G>A

1 paper

NM_014681.6

p.P514S

c.1540C>T

1 paper

NM_014681.6

p.Y515C

c.1544A>G

1 paper

NM_014681.6

p.V517F

c.1549G>T

1 paper

NM_014681.6

p.P518S

c.1552C>T

1 paper

NM_014681.6

p.G459R

c.1375G>A