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

1 paper

NM_138615.3

p.V558M

c.1672G>A

Surrounding Variants

4 papers

NM_138615.3

p.I557L

c.1669A>C

1 paper

NM_138615.3

p.V556I

c.1666G>A

8 papers

NM_138615.3

p.H562R

c.1685A>G

1 paper

NM_138615.3

p.G552G

c.1656C>T

1 paper

NM_138615.3

p.V566M

c.1696G>A

1 paper

NM_138615.3

p.F570_Q579del10

c.1708_1736del30

1 paper

NM_138615.3

p.R542C

c.1624C>T

1 paper

NM_138615.3

p.G538S

c.1612G>A

1 paper

NM_138615.3

p.P525S

c.1573C>T

1 paper

NM_138615.3

p.R520P

c.1559G>C

1 paper

NM_138615.3

p.Y602F

c.1805A>T

1 paper

NM_138615.3

p.E620*

c.1858G>T