Varaico: Literature-Extracted Genetic Variants

DHX30

98 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

DSRM_2aa 47–123UCSCdsRNA binding domain

DEADaa 437–599UCSCDEAD/DEAH box helicase

Helicase_Caa 652–787UCSCHelicase conserved C-terminal domain

HA2_Caa 880–939UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 1015–1105UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

Gene Aliases

HGNC Name

DExH-box helicase 30

HGNC Previous Symbol

DDX30

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_138615.3

p.G224W

c.670G>T

Surrounding Variants

1 paper

NM_138615.3

p.T257M

c.770C>T

1 paper

NM_138615.3

p.P218P

c.654A>T

1 paper

NM_138615.3

p.P218L

c.653C>T

1 paper

NM_138615.3

p.E190_E193delFs

c.570_579del10

1 paper

NM_138615.3

p.R174*

c.520C>T

1 paper

NM_138615.3

p.S152N

c.455G>A

1 paper

NM_138615.3

p.R145G

c.433C>G

1 paper

NM_138615.3

p.R140Q

c.419G>A

1 paper

NM_138615.3

p.A136V

c.407C>T

1 paper

NM_014966.4

p.G233R

c.697G>C

1 paper

NM_138615.3

p.K310R

c.929A>G

1 paper

NM_138615.3

p.A333S

c.997G>T