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.G1125R

c.3373G>A

Surrounding Variants

1 paper

NM_014681.6

p.G1125R

c.3373G>C

1 paper

NM_014681.6

p.L1115P

c.3344T>C

1 paper

NM_014681.6

p.R1137insFs

c.3410_3411insCT

1 paper

NM_014681.6

p.Q1141P

c.3422A>C

1 paper

NM_014681.6

p.H1086fs

c.3256_3257fs

1 paper

NM_014681.6

p.A1085G

c.3254C>G

1 paper

NM_014681.6

p.A1085_H1086delFs

c.3255_3256delCC

1 paper

NM_014681.6

p.T1053_N1054Splc

c.3159+8T>C

1 paper

NM_014681.6

p.T1037I

c.3110C>T

1 paper

NM_014681.6

p.P1021L

c.3062C>T

1 paper

NM_014681.6

p.R1001W

c.3001C>T

4 papers

NM_014681.6

p.R1000Q

c.2999G>A